spinal muscular atrophies of childhood

Summary

Summary: A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)

Top Publications

  1. ncbi Determination of SMN1 and SMN2 copy number using TaqMan technology
    Dirk Anhuf
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Hum Mutat 22:74-8. 2003
  2. ncbi Identification and characterization of a spinal muscular atrophy-determining gene
    S Lefebvre
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Institut National de la Sante et de la Recherche Medicale, Institut Necker, Hopital des Enfants Malades, Paris, France
    Cell 80:155-65. 1995
  3. ncbi Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord
    Caroline Soler-Botija
    Servei de Genètica and Institut de Recerca, Hospital de Sant Pau, Barcelona, Spain
    Brain 125:1624-34. 2002
  4. ncbi X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping
    Devin Dressman
    Research Center for Genetic Medicine, Children s National Medical Center, Washington, DC, USA
    Genet Med 9:52-60. 2007
  5. ncbi Spinal muscular atrophy
    Mitchell R Lunn
    Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA
    Lancet 371:2120-33. 2008
  6. ncbi Surgical treatment of scoliosis in a spinal muscular atrophy population
    D P Phillips
    Columbia Presbyterian Medical Center, New York, New York
    Spine (Phila Pa 1976) 15:942-5. 1990
  7. ncbi Forward shifting of posterior dural sac during flexion cervical magnetic resonance imaging in Hirayama disease: an initial study on normal subjects compared to patients with Hirayama disease
    Vincent Lai
    Department of Radiology, Tuen Mun Hospital, Tuen Mun, Hong Kong
    Eur J Radiol 80:724-8. 2011
  8. ncbi The increased range of cervical flexed motion detected by radiographs in Hirayama disease
    Xiaojuan Xu
    Department of Radiology, Peking University Third Hospital, North Huayuan Road No 49, Haidian District, Beijing 100191, China
    Eur J Radiol 78:82-6. 2011
  9. ncbi Minimum 5-year radiographic results of long scoliosis fusion in juvenile spinal muscular atrophy patients: major curve progression after instrumented fusion
    Lukas P Zebala
    Orthopaedic Surgery, Washington University in St Louis, St Louis, MO, USA
    J Pediatr Orthop 31:480-8. 2011
  10. ncbi Angiographically proven cervical venous engorgement: a possible concurrent cause in the pathophysiology of Hirayama's myelopathy
    Elisa F Ciceri
    Department of Neuroradiology, Fondazione Istituto Neurologico C Besta, Via Celoria 11, Milan, Italy
    Neurol Sci 31:845-8. 2010

Detail Information

Publications185 found, 100 shown here

  1. ncbi Determination of SMN1 and SMN2 copy number using TaqMan technology
    Dirk Anhuf
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Hum Mutat 22:74-8. 2003
    ..Therefore, determination of SMN1 and SMN2 copy numbers should only be offered after careful consideration in each case...
  2. ncbi Identification and characterization of a spinal muscular atrophy-determining gene
    S Lefebvre
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Institut National de la Sante et de la Recherche Medicale, Institut Necker, Hopital des Enfants Malades, Paris, France
    Cell 80:155-65. 1995
    ..These data suggest that this gene, termed the survival motor neuron (SMN) gene, is an SMA-determining gene...
  3. ncbi Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord
    Caroline Soler-Botija
    Servei de Genètica and Institut de Recerca, Hospital de Sant Pau, Barcelona, Spain
    Brain 125:1624-34. 2002
    ....
  4. ncbi X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping
    Devin Dressman
    Research Center for Genetic Medicine, Children s National Medical Center, Washington, DC, USA
    Genet Med 9:52-60. 2007
    ..3-q11.2. Here we report further clinical description of XL-SMA plus an additional seven unrelated (XL-SMA) families from North America and Europe that show linkage data consistent with the same region...
  5. ncbi Spinal muscular atrophy
    Mitchell R Lunn
    Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA
    Lancet 371:2120-33. 2008
    ..In this Seminar, we provide a comprehensive review that integrates clinical manifestations, molecular pathogenesis, diagnostic strategy, therapeutic development, and evidence from clinical trials...
  6. ncbi Surgical treatment of scoliosis in a spinal muscular atrophy population
    D P Phillips
    Columbia Presbyterian Medical Center, New York, New York
    Spine (Phila Pa 1976) 15:942-5. 1990
    ..The prolonged survival of patients with spinal muscular atrophy justifies aggressive orthopaedic management of scoliosis to prevent progression of deformity and improve sitting comfort...
  7. ncbi Forward shifting of posterior dural sac during flexion cervical magnetic resonance imaging in Hirayama disease: an initial study on normal subjects compared to patients with Hirayama disease
    Vincent Lai
    Department of Radiology, Tuen Mun Hospital, Tuen Mun, Hong Kong
    Eur J Radiol 80:724-8. 2011
    ..We aim to explore the degree of forward displacement of posterior dural sac in normal subjects compared to that with Hirayama disease...
  8. ncbi The increased range of cervical flexed motion detected by radiographs in Hirayama disease
    Xiaojuan Xu
    Department of Radiology, Peking University Third Hospital, North Huayuan Road No 49, Haidian District, Beijing 100191, China
    Eur J Radiol 78:82-6. 2011
    ....
  9. ncbi Minimum 5-year radiographic results of long scoliosis fusion in juvenile spinal muscular atrophy patients: major curve progression after instrumented fusion
    Lukas P Zebala
    Orthopaedic Surgery, Washington University in St Louis, St Louis, MO, USA
    J Pediatr Orthop 31:480-8. 2011
    ..The purpose of this study was to assess minimum 5-year radiographic outcomes, MCP, and factors for MCP after spinal surgery in juvenile SMA patients with open triradiate cartilage at the time of surgery...
  10. ncbi Angiographically proven cervical venous engorgement: a possible concurrent cause in the pathophysiology of Hirayama's myelopathy
    Elisa F Ciceri
    Department of Neuroradiology, Fondazione Istituto Neurologico C Besta, Via Celoria 11, Milan, Italy
    Neurol Sci 31:845-8. 2010
    ..In Hirayama myelopathy, compression of the spinal cord by the tight dura is probably the most important pathogenetic factor. However, venous congestion in flexion might play an additional role in determining spinal cord ischemic changes...
  11. ncbi Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection
    Albert Fujak
    Department of Orthopaedic Surgery, Friedrich Alexander University Erlangen Nuremberg, Germany
    Ortop Traumatol Rehabil 12:410-9. 2010
    ..This study deals with restrictions of the passive range of motion and the development of contractures in the joints of the upper extremities in these patients...
  12. ncbi Cervical flexion myelopathy in a patient showing apparent long tract signs: a severe form of Hirayama disease
    Kenji Sakai
    Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13 1 Takaramachi, Kanazawa 920 8640, Japan
    Joint Bone Spine 78:316-8. 2011
    ..Our patient's disease progression suggests that cervical flexion myelopathy patients with severe cervical cord compression in flexion may develop extensive cervical cord injury beyond the anterior horn...
  13. ncbi Contractures of the lower extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection
    Albert Fujak
    Department of Orthopaedic Surgery, Friedrich Alexander University Erlangen Nuremberg, Germany
    Ortop Traumatol Rehabil 13:27-36. 2011
    ..This study deals with the restrictions of the passive range of motion and the development of contractures of the lower extremities in these patients...
  14. ncbi Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report
    Sheila Chandran
    Cincinnati Children s Medical Center, Cincinnati, Ohio 45229, USA
    J Pediatr Orthop 31:450-4. 2011
    ..Treatment is usually definitive fusion. The purpose of this study is to evaluate a novel growing rod technique used to treat more involved children with SMA types I and II with scoliosis at an earlier age...
  15. ncbi Hirayama disease in children from North America
    Partha S Ghosh
    Pediatric Neurology Center, Children s Hospital, Cleveland Clinic, Cleveland, Ohio 44195, USA
    J Child Neurol 26:1542-7. 2011
    ..5 months. Treatment consisted of placement of cervical collar. Heightened awareness of this entity among pediatric neurologists in North America will lead to early diagnosis and intervention, avoiding unnecessary investigations...
  16. ncbi Spinal muscular atrophy: natural history and orthopaedic treatment of scoliosis
    C Granata
    Department of Physiotherapy, Muscle Clinic of Istituto Ortopedico Rizzoli, Bologna, Italy
    Spine (Phila Pa 1976) 14:760-2. 1989
    ..Data on characteristics of the scoliotic curve are reported. The effectiveness of orthopaedic treatment in the prevention of scoliosis is discussed...
  17. ncbi Imaging features in Hirayama disease
    Hemant A Sonwalkar
    Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
    Neurol India 56:22-6. 2008
    ..To evaluate the MR findings in clinically suspected cases of Hirayama disease...
  18. ncbi [Juvenile muscular atrophy of unilateral upper extremity (Hirayama disease)--half-century progress and establishment since its discovery]
    Keizo Hirayama
    Hirayama Memorial Kita Neurology Clinic Meguro ku, Tokyo, Japan
    Brain Nerve 60:17-29. 2008
    ..There were fewer case reports from other countries than from Japan. As the number of patients is exceedingly large in Japan, there might be an ethnic factor in this disorder...
  19. ncbi Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan
    Kunio Tashiro
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Amyotroph Lateral Scler 7:38-45. 2006
    ..There was a predominantly unilateral hand and forearm involvement with 'cold paresis'. The imaging findings are described...
  20. ncbi Surgical and functional results of spine fusion in spinal muscular atrophy
    J C Brown
    Spine Deformity Service, Rancho Los Amigos Medical Center, Downey, California
    Spine (Phila Pa 1976) 14:763-70. 1989
    ..Surgical patients never approached their preoperative skill levels. Therapy evaluations further demonstrated that there were no difference in function between either operative group...
  21. ncbi [Cervical collar therapy for juvenile muscular atrophy of distal upper extremity (Hirayama disease): results from 38 cases]
    Y Tokumaru
    Department of Neurology, School of Medicine, Chiba University
    Rinsho Shinkeigaku 41:173-8. 2001
    ..Improvement is expected in patients who have shorter duration of illness and have mild cord atrophy in a neutral neck position. Early diagnosis and therapeutic intervention may minimize the functional disability of young patients...
  22. ncbi Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III
    S Y Chng
    Department of Paediatrics, The Children s Medical Institute, and Department of Orthopaedic Surgery, National University Hospital, Singapore
    J Paediatr Child Health 39:673-6. 2003
    ..The objectives were to evaluate the clinical course of spinal muscular atrophy (SMA) types II and III patients necessitating scoliosis surgery at the National University Hospital, Singapore...
  23. ncbi Advanced Hirayama disease with successful improvement of activities of daily living by operative reconstruction
    Susumu Chiba
    Department of Neurology, School of Medicine, Sapporo Medical University, Sapporo
    Intern Med 43:79-81. 2004
    ..An operative reconstruction can be valuable, even in patients with Hirayama disease who have developed impaired ADL due to extensive intrinsic hand muscle atrophy...
  24. ncbi Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
    Matthew D Mailman
    Department of Pathology, The Ohio State University, Columbus 43210, USA
    Genet Med 4:20-6. 2002
    ..A novel allele-specific intragenic mutation panel increases the sensitivity of SMN1 testing...
  25. pmc Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy
    Juliane Ramser
    Department of Obstetrics and Gynecology, Technical University Munich, 81675 Munich, Germany
    Am J Hum Genet 82:188-93. 2008
    ....
  26. ncbi Valproic acid increases SMN levels in spinal muscular atrophy patient cells
    Charlotte J Sumner
    Neurogenetics Branch, National Institute of Neurologic Diseases and Stroke NIH, Building 10, Room 3B 14, MSC 1250, 10 Center Drive, Bethesda, MD 20892, USA
    Ann Neurol 54:647-54. 2003
    ..Valproic acid may increase SMN levels both by activating the SMN promoter and by preventing exon 7 skipping in SMN transcripts. Valproic acid and related compounds warrant further investigation as potential treatment for SMA...
  27. ncbi An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene
    D W Parsons
    Department of Pathology, College of Biological Sciences, Ohio State University College of Medicine, Columbus 43210, USA
    Hum Mol Genet 5:1727-32. 1996
    ..This mutation provides strong support for SMN as the SMA-determining gene and indicates that disruption of SMNT on its own is sufficient to produce a severe type I SMA phenotype...
  28. ncbi A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients
    K Zerres
    Institute for Human Genetics, University of Bonn, Germany
    J Neurol Sci 146:67-72. 1997
    ..The data provide a reliable basis of the natural history of proximal SMA and support a classification system that is based primarily on age at onset and the achievement of motor milestones...
  29. ncbi Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
    S Rudnik-Schoneborn
    Institute of Human Genetics, RWTH Aachen University, Aachen, Germany
    Clin Genet 76:168-78. 2009
    ....
  30. ncbi Spinal muscular atrophy: survival pattern and functional status
    Brian H Y Chung
    Division of Neurodevelopmental Paediatrics, Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China
    Pediatrics 114:e548-53. 2004
    ..The objective of this study was to assess the survival pattern, ambulatory status, and functional status of children with SMA...
  31. ncbi Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
    C Andreassi
    Department of Molecular and Cellular Biochemistry, Ohio State University, Columbus, OH 43210, USA
    Hum Mol Genet 10:2841-9. 2001
    ....
  32. pmc Perspectives on clinical trials in spinal muscular atrophy
    Kathryn J Swoboda
    Department of Neurology, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
    J Child Neurol 22:957-66. 2007
    ..Following is an overview of the challenges and opportunities, current and future therapeutic strategies, and progress to date in clinical trials in spinal muscular atrophy...
  33. ncbi Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis
    Makoto Migita
    Department of Pediatrics, Nippon Medical School, Tokyo, Japan
    J Nippon Med Sch 70:45-8. 2003
    ..Therefore, this method should be applied with great care to prenatal diagnosis using chorionic villi, which may be contaminated with maternal tissue...
  34. ncbi Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families
    S Savas
    Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
    Prenat Diagn 22:703-9. 2002
    ....
  35. ncbi Spinal muscular atrophy type 1 quality of life
    John R Bach
    Department of Neuroscience, UMDNJ New Jersey Medical School, Newark, 07103, USA
    Am J Phys Med Rehabil 82:137-42. 2003
    ..To compare healthcare professionals' assessment of the quality of life of spinal muscular atrophy type 1 children with that of the care providers for the children...
  36. ncbi Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2
    Thomas W Prior
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    Am J Med Genet A 130:307-10. 2004
    ..Lastly, in cases similar to the ones described, the measurement of the SMN2 gene copy number may provide valuable prognostic information...
  37. ncbi Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients
    Mohd S Watihayati
    Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kota Braru, Malaysia
    Pediatr Int 49:11-4. 2007
    ..In Malaysia, it remains to be elucidated whether deletion of the SMN1 gene is also a main cause of SMA or whether deletion of the NAIP gene is found in the SMA patients...
  38. ncbi The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against
    Monique M Ryan
    Neurosciences Department, Royal Children s Hospital and Murdoch Children s Research Institute, Melbourne, Australia
    Paediatr Respir Rev 9:51-4; discussion 55-6. 2008
    ..Prolongation of life by invasive ventilation in such cases is futile given the absence of curative treatments for infants with SMA1, and overly burdensome given the unacceptable quality of life of such children...
  39. ncbi The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for
    John R Bach
    Department of Physical Medicine and Rehabilitation, UMDNJ New Jersey Medical School, University Hospital, Newark, NJ 07103, USA
    Paediatr Respir Rev 9:45-50; quiz 50; discussion 55-6. 2008
    ..In conclusion, both non-invasive aids and tracheostomy can prolong survival for SMA 1 patients, and it should be left up to the family to decide which, if either, they would like to use...
  40. ncbi SMN1 deletions among singaporean patients with spinal muscular atrophy
    A H M Lai
    Department of Paediatric Medicine, KK Women s and Children s Hospital, Singapore
    Ann Acad Med Singapore 34:73-7. 2005
    ..The purpose of our study was to determine the frequency of SMN1 deletions in patients with known SMA and the impact of this on the diagnosis of SMA...
  41. ncbi Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy
    John Thurmond
    deCODE Chemistry Inc, Woodridge, IL 60517, USA
    J Med Chem 51:449-69. 2008
    ..The compound restored gems numbers in type I SMA patient fibroblasts to levels near unaffected genetic carriers of SMA...
  42. ncbi A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins
    Tomohiro Kotani
    Dept of Public Health, Kobe University Graduate School of Medicine, 7 5 1 Kusunoki cho, Chuo Ku, Kobe, 650 0017, Japan
    J Neurol 254:624-30. 2007
    ..In conclusion, we reported here that a novel mutation, W92S, in the Tudor domain affects the interaction of SMN with the target proteins...
  43. ncbi Detection of novel mutations in the SMN Tudor domain in type I SMA patients
    I Cuscó
    Department of Genetics, University Hospital Sant Pau, Barcelona, Spain
    Neurology 63:146-9. 2004
    ..The remaining two patients showed no alterations in the SMN1 coding sequences although a transcription defect was detected in one of them, corroborating the existence of non-functional SMN1 genes...
  44. ncbi A clinical and genetic study of spinal muscular atrophy
    V N Mishra
    Department of Neurology, Sanjay Gandhi PGIMS, Lucknow
    Electromyogr Clin Neurophysiol 44:307-12. 2004
    ..This study evaluates clinical, electromyography (EMG) and genetic analysis of consecutive patients with spinal muscular atrophy (SMA) in a tertiary care adult neurology practice in India...
  45. ncbi Clinical trials in spinal muscular atrophy
    Basil T Darras
    Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
    Curr Opin Pediatr 19:675-9. 2007
    ..Disease severity is modified by the number of centromeric copies of the gene (SMN2) and the quantity of survival motor neuron protein. This has given rise to a number of treatment strategies...
  46. ncbi [Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]
    Maria Jedrzejowska
    Instytut Medycyny Doswiadczalnej i Klinicznej, Polska Akademia Nauk, Pawinskiego 5, 02 106 Warszawa, Poland
    Med Wieku Rozwoj 8:651-61. 2004
    ..Caused in 96.5% by deletion in the SMN1 gene. Owing to the homogeneity of the molecular defect. Secondary prophylaxis can readily be offered to families at risk of SMA...
  47. ncbi Clinical and genetic study of spinal muscular atrophies in Oman
    Roshan Koul
    Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Alkhoud, Muscat, Oman
    J Child Neurol 22:1227-30. 2007
    ..Survival motor neuron deletion was seen in 70% of cases of all types of spinal muscular atrophy. The deletion was 83% in spinal muscular atrophy type I. A further study to look into the nondeletional cases is in progress...
  48. ncbi Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome
    S Voutoufianakis
    Pediatric Department of Venizelion General Hospital Iraklion, Crete, Greece
    Eur J Paediatr Neurol 11:235-9. 2007
    ..Thorough clinical evaluation in combination with DNA analysis, allowed accurate diagnosis, providing valuable information for the genetic counseling of the family...
  49. ncbi [Type I spinal atrophy (Werdnig-Hoffman disease). Case report]
    Miguel Angel Collado-Ortiz
    Neurofisiologia Clinica, The American British Cowdray Medical Center
    Cir Cir 75:119-22. 2007
    ..We report a case of type I spinal muscular atrophy (SMA), also known as Werdnig-Hoffmann disease...
  50. ncbi [Neurological phenocopying]
    J M Pascual
    Departamentos de Neurologia, Fisiología y Pediatría, University of Texas Southwestern Medical Center, Dallas, Texas 75390 8813, USA
    Rev Neurol 43:753-7. 2006
    ....
  51. ncbi Descriptive epidemiology of spinal muscular atrophy type I in Estonia
    Eve Vaidla
    Department of Paediatrics, Tartu University, Tartu, Estonia
    Neuroepidemiology 27:164-8. 2006
    ..Only one of the patients was female. Typical SMN1 gene deletion was found in all cases...
  52. ncbi Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy
    M L Essawi
    Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Center, Cairo, Egypt
    Bratisl Lek Listy 108:133-7. 2007
    ..The aim of this study is to provide preliminary molecular data on spinal muscular atrophy in Egyptian patients thus facilitating a rapid and conventional molecular assay for accurate diagnosis of SMA...
  53. ncbi A feasibility study for the newborn screening of spinal muscular atrophy
    Robert E Pyatt
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    Genet Med 8:428-37. 2006
    ..This will require the adoption of techniques for the genetic analysis of affected individuals at the newborn stage. Our objective was to examine the feasibility surrounding the newborn screening for spinal muscular atrophy...
  54. ncbi Spinal muscular atrophy diagnostics
    Thomas W Prior
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    J Child Neurol 22:952-6. 2007
    ..Finally, although SMN2 produces less full-length transcript than SMN1, the number of SMN2 copies modulates the phenotype...
  55. ncbi Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis
    María Jesús Barceló
    Department of Genetics and Research Institute, Hospital Sant Pau, Barcelona, Spain
    Genet Med 8:259-62. 2006
    ..We present the results of carrier studies in 33 relatives of the paternal branch of a spinal muscular atrophy patient with homozygous absence of the SMN1 gene...
  56. ncbi Survival in SMA type I: a prospective analysis of 34 consecutive cases
    J M Cobben
    Department of Pediatrics, Emma Children Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Neuromuscul Disord 18:541-4. 2008
    ..All deceased children died of respiratory insufficiency and/or an intercurrent lung infection, indicating that the susceptibility of the child with SMA type I to respiratory infections plays an important role in determining the survival...
  57. ncbi Molecular mechanisms of spinal muscular atrophy
    Charlotte J Sumner
    Department of Neurology, Johns Hopkins University, Baltimore, Maryland 21287, USA
    J Child Neurol 22:979-89. 2007
    ..Histone deacetylase inhibitors will be discussed as an example...
  58. ncbi Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry
    Hung Yi Kao
    Institute of Chemistry, and Genomics Research Center, Academia Sinica, Taipei, Taiwan, ROC
    Clin Chem 52:361-9. 2006
    ....
  59. ncbi Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy
    Robert E Pyatt
    Department of Pathology, Ohio State University, Columbus, OH 43210, USA
    Clin Chem 53:1879-85. 2007
    ..We sought to validate liquid microbead arrays for the identification of affected individuals by direct DNA analysis...
  60. ncbi Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population
    T Zaldivar
    Cuban Institute of Neurology and Neurosurgery, Havana, Cuba
    Neurology 65:636-8. 2005
    ..89 per 100,000 for blacks, and 0.96 per 100,000 for those of mixed ethnicity. Type 1 SMA may occur less frequently in individuals of African ancestry...
  61. ncbi Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse
    Clément Grondard
    Universite Paris Descartes, Centre Universitaire des Saints Peres, F 75270 Paris, France
    J Neurosci 25:7615-22. 2005
    ..These data provide the first evidence for the beneficial effect of exercise in SMA and might lead to important therapeutic developments for human SMA patients...
  62. ncbi Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report
    Ana P Trentin
    Department of Internal Medicine, Neuromuscular Service, Clinical Hospital, Universidade Federal do Parana, Curitiba PR, Brazil
    Arq Neuropsiquiatr 63:330-1. 2005
    ..However, a genetic study performed later was found to be negative for this disease and was positive for Kugelberg-Welander's disease, with deletion of the exons 7 and 8 in the "survival of motor neuron" gene...
  63. ncbi Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system
    Sheng Wen Shaw
    Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Linkou Medical Center, Taoyuan, Taiwan
    Acta Obstet Gynecol Scand 87:960-8. 2008
    ..Use of Denaturing High-Performance Liquid Chromatography (DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA)...
  64. ncbi Spinal muscular atrophy
    Susan T Iannaccone
    Division of Neuromuscular Disease and Neurorehabilitation, Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 75219, USA
    Curr Neurol Neurosci Rep 4:74-80. 2004
    ..Rehabilitation and proper management of medical complications have improved both the quality and duration of life for children with spinal muscular atrophy...
  65. ncbi Involvement of survival motor neuron (SMN) protein in cell death
    Sheela Vyas
    INSERM U497, 46 rue d Ulm, Paris 75005, France
    Hum Mol Genet 11:2751-64. 2002
    ..Thus, our results show that the C-terminal region is critical in suppression of apoptosis by SMN...
  66. ncbi Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN
    P J Young
    MRIC Biochemistry Group, North East Wales Institute, Mold Road, Wrexham LL11 2AW, United Kingdom
    Exp Cell Res 265:252-61. 2001
    ..These unusual features of motor neurons may relate to their special sensitivity to reduced SMN levels in SMA patients...
  67. ncbi Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Technology Aachen, Germany
    Neurology 60:983-7. 2003
    ..Other organ malformations or peripheral nerve involvement have been regarded as exclusion criteria for infantile SMA. Whether SMN protein deficiency can also lead to loss of sensory neurons has not been systematically addressed...
  68. ncbi Death of motoneurons induced by trophic deprivation or by excitotoxicity is not prevented by overexpression of SMN
    C Cisterni
    INSERM U.382, CNRS-INSERM-Univ. Mediterranee-AP, Marseille, France
    Neurobiol Dis 8:240-51. 2001
    ....
  69. ncbi A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography
    Rosalucia Mazzei
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    J Child Neurol 18:269-71. 2003
    ..In this study, we describe a new method to detect SMN gene deletion by denaturing high-performance liquid chromatography, which is also simple to perform but is faster and more specific...
  70. ncbi [Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy]
    Maria Jedrzejowska
    Zespol Badawczo Leczniczy Chorob Nerwowo Miesniowych, Instytut Medycyny Doswiadczalnej i Klinicznej, Banacha 1a, 02 097 Warszawa, Poland
    Med Wieku Rozwoj 6:319-27. 2002
    ..All patients fulfilling the diagnostic criteria for SMA, as defined by the International SMA Consortium, without deletion of exon SMN1 gene, should be analysed using direct sequencing...
  71. ncbi Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy
    Celine Moutou
    Service de Biologie de la Reproduction SIHCUS CMCO, CHU de Strasbourg, Schiltigheim Cedex, France
    Prenat Diagn 23:685-9. 2003
    ..Such a test was used to perform 1 PGD cycle for which 7 embryos could be analysed. All the embryos were fully diagnosed, six as unaffected and one as affected. Four embryos were transferred, but no pregnancy ensued...
  72. ncbi Acute onset of infantile spinal muscular atrophy
    S Ravid
    Division of Pediatric Neurology, Schneider Children's Hospital, New Hyde Park, NY 11040, USA
    Pediatr Neurol 24:371-2. 2001
    ..This diagnosis should be considered in every child under 1 year of age who presents with acute weakness because Guillain-Barré syndrome in this age group is rare...
  73. ncbi [Proximal autosomal recessive types of spinal muscular atrophy]
    O V Kolokolov
    Zh Nevrol Psikhiatr Im S S Korsakova 103:66-8. 2003
    ..Pronounced clinical polymorphism and genetic heterogeneity of the disease were revealed...
  74. ncbi Severe spinal muscular atrophy variant associated with congenital bone fractures
    Ursula Felderhoff-Mueser
    Department of Neonatology, Humboldt University, Berlin, Germany
    J Child Neurol 17:718-21. 2002
    ..We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures...
  75. ncbi Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy
    K Cho
    Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea
    Mol Cells 11:21-7. 2001
    ..In the study of one hundred normal newborns, two physically normal newborns showed deletion of the centromeric SMN gene, suggesting frequent rearrangement in the locus...
  76. ncbi Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families
    C H Tsai
    Department of Medical Research, China Medical College Hospital, 2 Yuh Der Road, Taichung, Taiwan
    J Neurol Sci 190:35-40. 2001
    ..We also found two novel point mutations, an A insertion at codon 8 (AGT-->AAGT) and an A substitution at codon 228 (TTA-->TAA)...
  77. ncbi Spinal muscular atrophies
    Susan T Iannaccone
    Texas Scottish Rite Hospital for Children, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas 75219, USA
    Adv Neurol 88:83-98. 2002
  78. ncbi Spectrum of floppy children in Indian scenario
    T Dua
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
    Indian Pediatr 38:1236-43. 2001
    ..97% cases. Exon7 of SMNT gene was deleted in only 50% of SMA cases. CONCLUSIONS: Spinal muscular atrophy was the commonest cause of floppy children. The low rate of SMNT gene deletion detected needs confirmation with further studies...
  79. ncbi Spinal muscular atrophy with congenital fractures: postmortem analysis
    Ronald van Toorn
    Department of Pediatric Neurology, Red Cross War Memorial Children s Hospital, Cape Town, South Africa
    J Child Neurol 17:721-3. 2002
    ..At autopsy, extensive anterior horn cell loss was present. There was extensive disease of skeletal muscle with relative sparing of the diaphragm. This patient represents a further case of this rare and fatal disease...
  80. ncbi Prenatal diagnosis for risk of spinal muscular atrophy
    I Cuscó
    Genetics and Research Institute, Hospital de Sant Pau, Barcelona, Spain
    BJOG 109:1244-9. 2002
    ....
  81. ncbi Dexmedetomidine for awake fiberoptic intubation in a parturient with spinal muscular atrophy type III for cesarean delivery
    M M Neumann
    Department of Anesthesiology, Loma Linda University, 11234 Anderson Street, Suite 2532, Loma Linda, CA, 92350, USA
    Int J Obstet Anesth 18:403-7. 2009
    ..Dexmedetomidine alone provided adequate sedation for awake intubation without respiratory compromise in this patient...
  82. pmc The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability
    A M Glanzman
    Department of Physical Therapy, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Neuromuscul Disord 20:155-61. 2010
    ..The CHOP INTEND is a reliable measure of motor skills in patients with SMA-I and neuromuscular disorders presenting in infancy...
  83. ncbi Respiratory muscle training in neuromuscular disease: long-term effects on strength and load perception
    D Gozal
    Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA 70112, USA
    Med Sci Sports Exerc 31:1522-7. 1999
    ..Deterioration of respiratory muscle function in patients with neuromuscular disorders is primarily responsible for the high morbidity and mortality associated with these diseases...
  84. pmc A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy
    Umrao R Monani
    Department of Neurology, Ohio State University, Columbus, OH 43210, USA
    J Cell Biol 160:41-52. 2003
    ..Our mild SMA mice will be useful in (a) determining the effect of missense mutations in vivo and in motor neurons and (b) testing potential therapies in SMA...
  85. ncbi Noninvasive treatment strategy for swallowing problems related to prolonged nonoral feeding in spinal muscular atrophy type II
    Tae Hyun Cha
    Department of Occupational Therapy, Gangnam Severance Hospital, Yonsei University, Gangnam Gu, Seoul, 135 720, Republic of Korea
    Dysphagia 25:261-4. 2010
    ..These findings suggest that noninvasive treatment is a possible strategy for enhancing the swallowing function of a patient with SMA type II presenting with swallowing difficulties related to prolonged nonoral feeding...
  86. ncbi [Diagnostic trap and difficulties of genetic counseling in a family with neuromuscular disease carriers]
    G Lesca
    Service de Genetique, Hotel Dieu, 1, Place de l Hopital, 69288 Lyon, France
    Arch Pediatr 8:957-60. 2001
    ..Recent advances in the field of molecular genetics have provided useful tools for the diagnosis of neuromuscular disorders. Genetic counselling for many of these conditions may, however, be fraught with difficulties...
  87. ncbi Anaesthesia for caesarean section in spinal muscular atrophy type III
    L McLoughlin
    Department of Anaesthesia, Essex Rivers Healthcare Trust, Colchester General Hospital, Colchester, UK
    Int J Obstet Anesth 13:192-5. 2004
    ..We review the available literature and discuss the potential anaesthetic problems in the management of obstetric patients with this degenerative neuromuscular disorder...
  88. ncbi A comparison of gait in spinal muscular atrophy, type II and Duchenne muscular dystrophy
    Stéphane Armand
    Laboratoire d Automatique, de Mécanique et d Informatique industrielles et Humaines, Universite de Valenciennes et du Hainaut Cambresis, Le Mont Houy, 59313 Valenciennes Cedex 9, France
    Gait Posture 21:369-78. 2005
    ..Management of SMA II patients would include preservation of hip abductor and flexor strength to maintain mobility...
  89. ncbi Defective neuromuscular junction organization and postnatal myogenesis in mice with severe spinal muscular atrophy
    Elisabet Dachs
    Unitat de Neurobiologia Cellular, Departament de Medicina Experimental, Universitat de Lleida and Institut de Recerca Biomèdica de Lleida, Catalonia, Spain
    J Neuropathol Exp Neurol 70:444-61. 2011
    ..These findings raise questions regarding the primary contribution of a muscle cell defect to the SMA phenotype...
  90. ncbi Neurogenic muscle hypertrophy in type III spinal muscular atrophy
    Jeeyoung Oh
    Department of Neurology, Konkuk University School of Medicine, Seoul, Republic of Korea
    J Neurol Sci 308:147-8. 2011
    ..A mutation in SMN1 was found in a genetic analysis. This is the first report of neurogenic muscle hypertrophy seen in genetically confirmed spinal muscular atrophy III...
  91. ncbi Anesthesia for cesarean section in a patient with spinal muscular atrophy
    Ashraf S Habib
    Department of Anesthesiology, Division of Women s Anesthesia, Duke University Medical Center, Durham, NC 27710, USA
    J Clin Anesth 16:217-9. 2004
    ..We used propofol and alfentanil for rapid-sequence induction of anesthesia. We did not use any muscle relaxants intraoperatively. Postoperative care was provided in the intensive care unit. The patient made a good recovery...
  92. ncbi Body composition determined with MR in patients with Duchenne muscular dystrophy, spinal muscular atrophy, and normal subjects
    A Leroy-Willig
    Association Francaise contre les Myopathies, Evry, France
    Magn Reson Imaging 15:737-44. 1997
    ..Shorter protocols validated from whole-body data were shown to be more accurate than fat mass estimation derived from anthropometric measurements...
  93. ncbi Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation
    N Kurihara
    Department of Medicine Hematology, The University of Texas Health Science Center, San Antonio, Texas 78229, USA
    J Biol Chem 276:41035-9. 2001
    ..OSF-SMN interaction may provide more insights into novel cellular signaling mechanisms that may play an important role in congenital bone fractures associated with type I spinal muscular atrophy disease...
  94. pmc Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene
    Sarmila Majumder
    Department of Molecular and Cellular Biochemistry, College of Medicine, Ohio State University, Columbus, Ohio 43210, USA
    J Biol Chem 279:14803-11. 2004
    ..These findings suggest that the CRE-II site in SMN promoter positively regulates the expression of the SMN gene, and treatment with cAMP-elevating agents increases expression of both the full-length and exonDelta7SMN transcript...
  95. pmc Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III
    Galina Yu Zheleznyakova
    Laboratory for Prenatal Diagnostics of Inherited Diseases, Ott s Institute of Obstetrics and Gynecology RAMS, Mendeleevskaya Line 3, Saint Petersburg, Russia
    BMC Med Genet 12:96. 2011
    ..The SMN1 gene produces a full-length transcript (FL-SMN) while SMN2 is only able to produce a small portion of the FL-SMN because of a splice mutation which results in the production of abnormal SMNΔ7 mRNA...
  96. ncbi Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient
    Nawal Boulisfane
    Institut de Génétique Moléculaire de Montpellier IGMM, CNRS UMR 5535 IFR122, Université Montpellier I and II, 1919 Route de Mende, 34293 Montpellier Cedex 5, France
    Hum Mol Genet 20:641-8. 2011
    ..Our results suggest that SMA might result from the inefficient splicing of one or only a few pre-mRNAs carrying minor introns and coding for proteins required for motor neurons function and/or organization...
  97. ncbi [Clinical features and dynamics of cervical magnetic resonance imaging in Hirayama disease]
    Yu Fu
    Department of Neurology, Peking University Third Hospital, Beijing 100083, China
    Beijing Da Xue Xue Bao 39:189-92. 2007
    ..to investigate the clinical feature and dynamic changes of the cervical dural sac and spinal cord during neck flexion in Hirayama disease (juvenile muscular atrophy of distal upper extremity)...
  98. ncbi Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I
    M Chatwin
    Sleep and Ventilation Unit, Clinical and Academic Department of Sleep and Breathing, Royal Brompton Hospital, Sydney Street, London, UK
    Arch Dis Child 96:426-32. 2011
    ..There are widely discrepant views on the respiratory management of infants with spinal muscular atrophy (SMA) type I. Typically, management is palliative...
  99. ncbi Spinal muscular atrophy type 1: avoidance of hospitalization by respiratory muscle support
    Giancarlo Ottonello
    U O Anestesia e Rianimazione IRCCS G Gaslini, Genoa, Italy
    Am J Phys Med Rehabil 90:895-900. 2011
    ....
  100. pmc Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1
    Jie Zhou
    Institut National de la Santé et de la Recherche Médicale UMR, University of Paris, Biomedical Institute of Bicêtre, Le Kremlin Bicetre, France
    Am J Hum Genet 91:5-14. 2012
    ....
  101. ncbi Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1)
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, Istituto di Ricovero e Cura a Carattere Scientifico Foundation Ospedale Maggiore Policlinico, Italy
    J Neurosci 29:11761-71. 2009
    ..This is the first report that functional restoration of motor units with transplanted motoneurons is feasible in an animal model of a human motoneuron disease, opening up new possibilities for therapeutic intervention...

Research Grants10

  1. Translating a CSF delivered AAV9-SMN for treatment of Spinal Muscular Atrophy
    Brian K Kaspar; Fiscal Year: 2013
    ..Aim 4: Formally assess toxicology, immune response, biodistribution and long-term expression in mice that will support an IND application to the FDA (GLP). Aim 5: Prepare and Submit an IND to the FDA. ..
  2. CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHY
    Susan Iannaccone; Fiscal Year: 2005
    ..This continuing project is an important step toward our ultimate goal of finding an effective treatment for SMA. ..
  3. Regulation of the survival motor neuron gene
    CHARLOTTE SUMNER; Fiscal Year: 2008
    ..unreadable] [unreadable]..
  4. Phase III Trial of Minocycline in ALS-II Data Center
    Robert Miller; Fiscal Year: 2007
    ..The details of data management are described, including the methods for quality control, security and information technology. Finally, the analytic plan is described in full. ..
  5. Role of metallothioneins in hepatocellular carcinoma
    Samson Jacob; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  6. Alcohol-induced epigenetic changes in the liver genome
    Samson Jacob; Fiscal Year: 2007
    ..This proposal also fits well with the mission of the National Institute of Alcohol Abuse and Alcoholism on "alcohol metabolism and epigenetic effects on tissue injury". [unreadable] [unreadable] [unreadable]..
  7. Compliance and Posture Monitor
    Tariq Rahman; Fiscal Year: 2004
    ..Two prototype units will be constructed. Tests of the units will be carried out on five subjects. Once technical feasibility has been demonstrated with human subjects a clinical trial will be undertaken in phase II of the grant. ..
  8. DNA METHYLATION AND GENE EXPRESSION IN CANCER CELLS
    Samson Jacob; Fiscal Year: 2004
    ..It is hoped that this study could provide the impetus to explore ways to reactivate these repressed genes that may result in the arrest of specific neoplastic growth. ..
  9. MOLECULAR MECHANISMS OF METALLOTHIONEIN INDUCTION
    Samson Jacob; Fiscal Year: 2003
    ..Because MT induction is repressed in many cancer cells due to hypermethylation, the re-expresssion of MT may be one effective means to arrest malignant growth of these cells. ..
  10. The Electrophysiology of Motor Neuron Diseases
    Mark Bromberg; Fiscal Year: 2002
    ..Currently, most MUNE techniques rely on proprietary software. We will develop software for use on PC-based computer systems, making them available to all laboratories. ..