Giovanni Stevanin

Summary

Country: France

Publications

  1. ncbi A new phenotype linked to SPG27 and refinement of the critical region on chromosome
    Pascale Ribai
    INSERM U679 former U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    J Neurol 253:714-9. 2006
  2. ncbi Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
    Naima Bouslam
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Ann Neurol 57:567-71. 2005
  3. ncbi Recent advances in the genetics of spastic paraplegias
    Giovanni Stevanin
    INSERM UPMC Univ Paris 6 UMR_S679, Groupe Hospitalier Pitie Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Curr Neurol Neurosci Rep 8:198-210. 2008
  4. ncbi Spinocerebellar ataxia with sensory neuropathy (SCA25)
    Giovanni Stevanin
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Cerebellum 4:58-61. 2005
  5. doi Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4)
    Giovanni Stevanin
    INSERM U679, Groupe Pitié Salpêtrière, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Cerebellum 7:170-8. 2008
  6. ncbi Spinocerebellar ataxia with mental retardation (SCA13)
    Giovanni Stevanin
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Cerebellum 4:43-6. 2005
  7. ncbi Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
    Giovanni Stevanin
    INSERM U679, Salpetriere Hospital, 47 Boulevard de l Hopital, 75013 Paris, France
    Neurogenetics 7:149-56. 2006
  8. ncbi Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p
    Giovanni Stevanin
    INSERM U289, Federative Institute for Neuroscience Research IFR 70, Paris
    Ann Neurol 55:97-104. 2004
  9. ncbi Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
    Giovanni Stevanin
    INSERM, UMR679, Federal Institute for Neuroscience Research, Pitie Salpetriere Hospital, Paris, France
    Nat Genet 39:366-72. 2007
  10. ncbi A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
    Sylvain Hanein
    INSERM, Unit 679, 47 bd de l Hopital, 75013 Paris, France
    Hum Genet 122:261-73. 2007

Detail Information

Publications62

  1. ncbi A new phenotype linked to SPG27 and refinement of the critical region on chromosome
    Pascale Ribai
    INSERM U679 former U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    J Neurol 253:714-9. 2006
    ..6 cM. This is the first clinical description of a complicated form of spastic paraplegia, characterized by great phenotypic variability among the sibs, associated with the SPG27 locus...
  2. ncbi Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
    Naima Bouslam
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Ann Neurol 57:567-71. 2005
    ..No mutations were found in exons of GCH1 and SPG3A, two genes from the candidate region involved in movement disorders...
  3. ncbi Recent advances in the genetics of spastic paraplegias
    Giovanni Stevanin
    INSERM UPMC Univ Paris 6 UMR_S679, Groupe Hospitalier Pitie Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Curr Neurol Neurosci Rep 8:198-210. 2008
    ....
  4. ncbi Spinocerebellar ataxia with sensory neuropathy (SCA25)
    Giovanni Stevanin
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Cerebellum 4:58-61. 2005
    ..Clinical variability ranges from incomplete penetrance at age 61 to a Friedreich ataxia-like syndrome. The responsible locus was mapped to chromosome 2p in a large region of 14 Mbases in a single French kindred...
  5. doi Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4)
    Giovanni Stevanin
    INSERM U679, Groupe Pitié Salpêtrière, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Cerebellum 7:170-8. 2008
    ..Interestingly, the TBP protein mutated in SCA17 is recruited in the inclusions of other polyglutaminopathies, suggesting its involvement in the transcription down-regulation observed in these diseases...
  6. ncbi Spinocerebellar ataxia with mental retardation (SCA13)
    Giovanni Stevanin
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Cerebellum 4:43-6. 2005
    ..The responsible gene has been assigned to a 5.2 Mbases interval on chromosome 19q in a single French family...
  7. ncbi Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
    Giovanni Stevanin
    INSERM U679, Salpetriere Hospital, 47 Boulevard de l Hopital, 75013 Paris, France
    Neurogenetics 7:149-56. 2006
    ..Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy...
  8. ncbi Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p
    Giovanni Stevanin
    INSERM U289, Federative Institute for Neuroscience Research IFR 70, Paris
    Ann Neurol 55:97-104. 2004
    ..The gene responsible for SCA25 remains to be identified...
  9. ncbi Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
    Giovanni Stevanin
    INSERM, UMR679, Federal Institute for Neuroscience Research, Pitie Salpetriere Hospital, Paris, France
    Nat Genet 39:366-72. 2007
    ..The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP...
  10. ncbi A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
    Sylvain Hanein
    INSERM, Unit 679, 47 bd de l Hopital, 75013 Paris, France
    Hum Genet 122:261-73. 2007
    ..3-23.31, was found to segregate in all affected patients (but not in probably or possibly affected subjects) and in a high proportion of healthy at risk individuals, suggesting that this locus might act as a modifier of the phenotype...
  11. ncbi Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
    Paola S Denora
    INSERM, UMR_S679, Paris, France
    Hum Mutat 30:E500-19. 2009
    ..While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing...
  12. ncbi Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
    Giovanni Stevanin
    1INSERM, U679, Universite Pierre et Marie Curie Paris 6, UMR S679, Paris, France
    Brain 131:772-84. 2008
    ..In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype...
  13. ncbi Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
    Stephan Klebe
    INSERM U679, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Brain 129:1456-62. 2006
    ..The phenotype of the linked family consists of spastic paraparesis and peripheral neuropathy associated with slight cerebellar signs confirmed by cerebellar atrophy on one CT scan...
  14. pmc Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia
    Typhaine Esteves
    Université Pierre and Marie Curie Paris VI, Unité Mixte de Recherche S975, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, Groupe Hospitalier Pitie Salpetriere, 75013 Paris, France Institut National de la Santé et de la Recherche Médicale, Unité 975, 75013 Paris, France Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7225, 75013 Paris, France Laboratoire de Neurogénétique, Ecole Pratique des Hautes Etudes, institut du cerveau et de la moelle épinière, Groupe Hospitalier Pitie Salpetriere, 75013 Paris, France
    Am J Hum Genet 94:268-77. 2014
    ..They have also important implications for genetic diagnosis and counseling in clinical practice because of the association of various modes of inheritance to this new clinico-genetic entity...
  15. ncbi Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description
    Stephan Klebe
    INSERM U679, Pierre and Marie Curie Paris 6 University, Pitie Salpetriere Hospital, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Am J Med Genet B Neuropsychiatr Genet 144:854-61. 2007
    ..We have refined the SPG5 locus to a 3.8 cM interval and extended the phenotype of this form of ARHSP to include slight cerebellar signs...
  16. ncbi Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
    Nizar Elleuch
    INSERM, U679, Groupe Hospitalier Pitie Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Neurogenetics 8:307-15. 2007
    ..Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus...
  17. pmc KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
    Stephan Klebe
    INSERM, U975, Paris, France
    Eur J Hum Genet 20:645-9. 2012
    ..In published families, the nature of the KIF1A mutations seems to be of good predictor of the underlying phenotype and vice versa...
  18. doi Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
    Cyril Goizet
    INSERM, UMR_S679, Paris, France
    Hum Mutat 30:E376-85. 2009
    ..SPG10 mutations were found in 10% of our complicated forms of HSP, suggesting that mutations in KIF5A represent the major cause of complicated AD-HSP in France...
  19. pmc Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons
    Constantin Yanicostas
    INSERM, U676, Hopital Robert Debre, Paris, France
    PLoS ONE 7:e50705. 2012
    ..These findings further suggest that altered protein function may play a role in the pathophysiology of the disease, an important step toward the development of future therapeutic strategies...
  20. pmc Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia
    Elodie Martin
    Unité Mixte de Recherche S975, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, Pitie Salpetriere Hospital, Universite Pierre et Marie Curie Paris 6, Paris, France
    Am J Hum Genet 92:238-44. 2013
    ..This study highlights the role of ceramide metabolism in HSP pathology...
  21. ncbi New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14
    Stephan Klebe
    Institut National de la Sante et de la Recherche Médicale U679 formerly U289 and Institut Fédératif de Recherche en Neurosciences, Paris, France
    Ann Neurol 58:720-9. 2005
    ..SCA14 represented only 1.5% (7/454) of French ADCA families but none of the German families. It should, however, be considered in patients with slowly progressive ADCA, particularly when myoclonus and cognitive impairment are present...
  22. doi Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish
    Elodie Martin
    INSERM, U975, 75013 Paris, France
    Neurobiol Dis 48:299-308. 2012
    ....
  23. doi CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
    Cyril Goizet
    INSERM UPMC UMR_S 975 ex U679, CRicm, Bat Pharmacie, Pitie Salpetriere Hospital, 47 Boulevard de l Hopital, Paris Cedex 13, France
    Brain 132:1589-600. 2009
    ..3% (n = 3/90) in our series of sporadic pure spastic paraplegia. The recent identification of CYP7B1 as the gene responsible for SPG5 highlights a novel molecular mechanism involved in hereditary spastic paraplegia determinism...
  24. ncbi Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity
    Morwena Latouche
    INSERM U679 former U289, Neurologie et Thérapeutique Expérimentale, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Mol Cell Neurosci 31:438-45. 2006
    ....
  25. ncbi Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
    Giovanni Stevanin
    INSERM U289, Hopital de la Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Brain 126:1599-603. 2003
    ..Expansions in the DRPLA gene and insertions in the PRNP gene were not found in our group of patients. Further genetic heterogeneity of the HDL phenotype therefore exists...
  26. ncbi PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases
    Junko Takahashi
    Laboratoire de Neuropathologie Raymond Escourolle, Hopital de la Salpetriere, AP HP, Paris, France
    Neurobiol Dis 13:230-7. 2003
    ..These data suggest that NIIs originate from nuclear bodies, where mutant proteins accumulate for degradation...
  27. pmc RAD51 haploinsufficiency causes congenital mirror movements in humans
    Christel Depienne
    INSERM, U CRICM, Hopital Pitie Salpetriere, Paris, France
    Am J Hum Genet 90:301-7. 2012
    ..These findings open a new field of investigation for researchers attempting to unravel the molecular pathways underlying bimanual motor control in humans...
  28. ncbi Hereditary spastic paraplegias: an update
    Christel Depienne
    INSERM, U679, Paris, France
    Curr Opin Neurol 20:674-80. 2007
    ..Cerebral MRI and the familial history of each patient with spastic paraplegia are the minimal clinical elements needed to orient genetic testing...
  29. ncbi Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
    Alexandra Durr
    Département de génétique, cytogénétique et embryologie, and INSERM U289, Hôpital Salpêtrière AP HP, Paris, France
    Arch Neurol 61:1867-72. 2004
    ..The atlastin1 gene has recently been implicated in SPG3A, a form of autosomal dominant pure spastic paraplegia. Atlastin1 mutations have been identified in 8 families so far...
  30. pmc SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia
    Cecilia Marelli
    Inserm U975, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, Paris Cedex 13, France
    Arch Neurol 68:637-43. 2011
    ..Deletions in ITPR1, coding for the inositol-triphosphate receptor type 1, have been recently identified in spinocerebellar ataxia type 15 (SCA15)...
  31. ncbi Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
    Isabelle Le Ber
    Federation de Neurologie, hôpital Pitié Salpêtrière AP HP, Paris, France
    Brain 127:759-67. 2004
    ..In adults, AOA2 may be, therefore, the most frequent cause of ARCA identified so far, after Friedreich's ataxia...
  32. ncbi Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
    Giovanni Stevanin
    INSERM U289, Institut Fédératif de Recherche en Neuroscience, Assistance Publique Hopitaux de Paris, Hôpital de al Salpêtrière, Paris, France
    Arch Neurol 61:1242-8. 2004
    ....
  33. pmc Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia
    Amir Boukhris
    Service de Neurologie, hôpital universitaire Habib Bourguiba, 3029 Sfax, Tunisia
    Am J Hum Genet 93:118-23. 2013
    ..Interestingly, although the catabolism of gangliosides is implicated in a variety of neurological diseases, SPG26 is only the second human disease involving defects of their biosynthesis. ..
  34. pmc Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia
    Christelle Tesson
    Unité 975, Institut National de la Sante et de la Recherche Medicale, 75013 Paris, France
    Am J Hum Genet 91:1051-64. 2012
    ..Our combined results focus attention on lipid metabolism as a critical HSP pathway with a deleterious impact on mitochondrial bioenergetic function...
  35. ncbi Spinocerebellar ataxias caused by polyglutamine expansions
    Giovanni Stevanin
    INSERM U289, Institut Fédératif di Recherche des Neurosciences, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Adv Exp Med Biol 516:47-77. 2002
  36. doi Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice
    Alice Chort
    Universite Pierre et Marie Curie Paris 6, UMR S 975, 75013 Paris, France
    Brain 136:1732-45. 2013
    ..Finally, since neuronal death does not occur in the cerebellum of SCA7(266Q/5Q) mice, we showed in primary cell cultures expressing mutant ataxin 7 that interferon beta treatment improves Purkinje cell survival...
  37. pmc Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
    Stephan Klebe
    INSERM, UMR_S975 CRICM, F 75013 Paris, France
    Brain 135:2980-93. 2012
    ..Altogether, these results emphasize the clinical variability associated with SPG7 mutations, ranging from optic neuropathy to spastic paraplegia, and support the view that SPG7 screening should be carried out in both conditions...
  38. doi Spinocerebellar ataxia 13 and 25
    Giovanni Stevanin
    Universite Pierre et Marie Curie Paris 6, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, Paris, France
    Handb Clin Neurol 103:549-53. 2012
    ..While the gene responsible for SCA25 is still unknown, missense mutations affecting the potassium channel KCNC3 function have been identified...
  39. doi Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia
    Reena Prity Murmu
    INSERM, U975, Universite Pierre et Marie Curie Paris 6, UMR_S975, Centre de Recherche de l Institut du Cerveau et de la Moelle épinière CR icm, GHU Pitié Salpêtrière, CNRS, Paris, France
    Mol Cell Neurosci 47:191-202. 2011
    ..This first study of the endogenous expression of spatacsin and spastizin shows similarities in their expression patterns that could account for their overlapping clinical phenotypes and involvement in a common protein complex...
  40. pmc Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
    Sophie Tezenas du Montcel
    UPMC Univ Paris 06, ER4, Modelling in Clinical Research, Paris, France Department of Biostatistics and Medical Informatics, AP HP, Hôpitaux Universitaires Pitié Salpêtrière Charles Foix, Paris, France
    J Med Genet 51:479-86. 2014
    ..While the number of repeats of the coding (CAG)n expansions is correlated with the age at onset, there are no appropriate models that include both affected and preclinical carriers allowing for the prediction of age at onset...
  41. ncbi Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content
    Junko Takahashi
    Laboratoire de Neuropathologie Raymond Escourolle, Paris, France
    Brain 125:1534-43. 2002
    ..CREB-binding protein (CBP), another component of NBs, was distributed like PML in NIIs. Our results suggest that NIIs are formed by the accumulation of ataxin-7 in NBs, which become enlarged as they recruit related proteins...
  42. ncbi Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort
    Bart P C van de Warrenburg
    Department of Neurology, University Medical Center Nijmegen, The Netherlands
    Ann Neurol 57:505-12. 2005
    ..Besides polyglutamine motif (determined by the expanded CAG repeat length), we identified the following age at onset modifiers: protein context in SCA2; familial factors in SCA2 and SCA3; and the nonexpanded CAG repeat in SCA1 and SCA6...
  43. ncbi Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype
    Tomas S Aleman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Exp Eye Res 74:737-45. 2002
    ....
  44. ncbi Spectrin mutations cause spinocerebellar ataxia type 5
    Yoshio Ikeda
    Department of Genetics, Cell Biology, and Development, University of Minnesota, 321 Church St SE, Minneapolis, Minnesota 55455 USA
    Nat Genet 38:184-90. 2006
    ..Spectrin mutations are a previously unknown cause of ataxia and neurodegenerative disease that affect membrane proteins involved in glutamate signaling...
  45. pmc Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay
    Claudia Cagnoli
    Dipartimento di Genetica Biologia e Biochimica, Universita degli Studi di Torino, Via Santena 19, 10126, Torino, Italy
    J Mol Diagn 8:128-32. 2006
    ..This test may be of practical value in prenatal diagnoses offered to affected or pre-symptomatic at-risk parents, in which a very large expansion inherited from one of the parents can be missed in the fetus by standard PCR...
  46. ncbi A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes
    Morwena Latouche
    Institut National de la Sante et de la Recherche Medicale, Unité 679, Paris F 75013, France
    J Neurosci 27:2483-92. 2007
    ..Sodium butyrate, a histone deacetylase inhibitor, improved the survival time of the neurons. This model is therefore a powerful tool for studying SCA7 and for the development of potential therapies for polyQ diseases...
  47. ncbi SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation
    Roberto Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, IRCCS Foundation, Ospedale Maggiore, Policlinico Mangiagalli and Regina Elena, University of Milan, Via Francesco Sforza 35, Milan 20122, Italy
    Neurogenetics 8:301-5. 2007
    ..This finding is the first independent confirmation that spatacsin loss of function mutations cause ARHPS-TCC...
  48. pmc Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
    Christel Depienne
    J Med Genet 44:281-4. 2007
    ..Point mutations in SPG4, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic paraplegia (AD-HSP). However, standard methods for genetic analyses fail to detect exonic microdeletions...
  49. ncbi A novel locus for autosomal recessive spastic ataxia on chromosome 17p
    Naima Bouslam
    Neurology B and Neurogenetics Unit, Specialities Hospital, Rabat, Morocco
    Hum Genet 121:413-20. 2007
    ..Most cases also showed fasciculations suggesting that both lower and upper motor neurons are involved in the disease process. No mutations were found in the coding exons of KIF1C, ARRB2 and ANKFY1, three genes in the candidate region...
  50. doi Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity
    Amir Boukhris
    Department of Neurology, Habib Bourguiba University Hospital, Tunis, Tunisia
    Arch Neurol 65:393-402. 2008
    ..To perform a clinical and genetic study of Tunisian families with autosomal recessive (AR) hereditary spastic paraplegia with thin corpus callosum (HSP-TCC)...
  51. ncbi The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients
    Claudia Cagnoli
    Mov Disord 22:752-3. 2007
  52. ncbi A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP
    Christel Depienne
    Neurogenetics 8:231-3. 2007
    ..These observations indicate that de novo mutations can occur in SPG4, and that somatic mosaicism might account for intra-familial variation in SPG4-linked HSP...
  53. ncbi Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity
    Alexander Lossos
    Department of Neurology, Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Arch Neurol 63:756-60. 2006
    ..The locus for HSP-TCC, designated SPG11, was mapped to chromosome 15q13-15 in some of the affected families from Japan, Europe, and North America, spanning an interval of 17.5 megabases (Mb)...
  54. ncbi NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe
    Stephan Klebe
    Neurogenetics 8:155-7. 2007
  55. ncbi Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14
    Stephan Klebe
    Arch Neurol 64:913-4. 2007
  56. ncbi Asian origin for the worldwide-spread mutational event in Machado-Joseph disease
    Sandra Martins
    Instituto de Patologia e Imunologia Molecular da Universidade do Porto and Faculdade de Ciências, University of Porto, Porto, Portugal
    Arch Neurol 64:1502-8. 2007
    ..Machado-Joseph disease is the most frequent dominant ataxia worldwide. Despite its frequency and presence in many populations, only 2 founder mutations have been suggested to explain its current geographic distribution...
  57. ncbi Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
    Maria Ceu Moreira
    IGBMC Centre National de la Recherche Scientifique, Institut National de la Sante et de la Recherche Medicale, ULP 67404 Illkirch, C U de Strasbourg, France
    Nat Genet 36:225-7. 2004
    ..Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination...
  58. ncbi Spastic paraplegia 15: linkage and clinical description of three Tunisian families
    Amir Boukhris
    Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia
    Mov Disord 23:429-33. 2008
    ..Interestingly, like retinal degeneration, thin corpus callosum is not a constant feature in this entity...
  59. ncbi Spinocerebellar ataxia type 10 in the French population
    Hiroto Fujigasaki
    Ann Neurol 51:408-9. 2002
  60. pmc Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
    Sylvain Hanein
    Institut National de la Sante et de la Recherche Medicale INSERM, Unité Mixte de Recherche UMR S679, Neurologie et Thérapeutique Expérimentale, Paris, F 75013 France
    Am J Hum Genet 82:992-1002. 2008
    ..In cultured cells, spastizin colocalized partially with markers of endoplasmic reticulum and endosomes, suggesting a role in intracellular trafficking...
  61. ncbi A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene
    Michito Namekawa
    Neurogenetics 7:131-2. 2006
  62. ncbi Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
    Michael F Waters
    Division of Neurology and Rose Moss Laboratory for Parkinson s and Neurodegenerative Diseases, Burns and Allen Research Institute, Cedars Sinai Medical Center, Los Angeles, California, 90048 USA
    Nat Genet 38:447-51. 2006
    ..Our results establish a role for KCNC3 in phenotypes ranging from developmental disorders to adult-onset neurodegeneration and suggest voltage-gated K+ channels as candidates for additional neurodegenerative diseases...