Genomes and Genes
- A new phenotype linked to SPG27 and refinement of the critical region on chromosomePascale 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...
- 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...
- Recent advances in the genetics of spastic paraplegiasGiovanni 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....
- 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...
- Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumGiovanni 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...
- 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...
- Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni 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...
- Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2pGiovanni 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...
- 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...
- A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3Sylvain 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...
- Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionPaola 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...
- Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni 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...
- Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3Stephan 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...
- Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaTyphaine 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...
- Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical descriptionStephan 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...
- Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab familiesNizar 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...
- KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsStephan 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...
- Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10Cyril 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...
- Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neuronsConstantin 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...
- Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaElodie 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...
- New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14Stephan 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...
- Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafishElodie Martin
INSERM, U975, 75013 Paris, France
Neurobiol Dis 48:299-308. 2012....
- Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicityMorwena Latouche
INSERM U679 former U289, Neurologie et Thérapeutique Expérimentale, Groupe Hospitalier Pitie Salpetriere, Paris, France
Mol Cell Neurosci 31:438-45. 2006....
- CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril 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...
- Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genesGiovanni 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...
- Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegiaChristelle 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...
- Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genesSophie Tezenas du Montcel
1 Sorbonne Universités, Universite Pierre et Marie Curie UPMC Univ Paris 06, UMR_S 1136, Institut Pierre Louis d Epidémiologie et de Santé Publique, F 75013, Paris, France2 Inserm, UMR_S 1136, Institut Pierre Louis d Epidémiologie et de Santé Publique, F 75013, Paris, France3 AP HP, Groupe Hospitalier Pitie Salpetriere, Biostatistics Unit, Paris, F 75013, France
Brain 137:2444-55. 2014..As the variability in age at onset is not completely explained by the effects of the causative and modifier sister genes, other genetic or environmental factors must also play a role in these diseases...
- PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseasesJunko 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...
- RAD51 haploinsufficiency causes congenital mirror movements in humansChristel 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...
- Hereditary spastic paraplegias: an updateChristel 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...
- Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegiaAlexandra 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...
- SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxiaCecilia 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)...
- Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patientsIsabelle 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...
- Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14Giovanni 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....
- Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegiaAmir 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. ..
- The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in miceSandro Alves
Sorbonne Universités, UPMC Univ Paris 6, ICM, 75013, Paris, France
Acta Neuropathol 128:705-22. 2014....
- Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegiaReena 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...
- Spinocerebellar ataxias caused by polyglutamine expansionsGiovanni Stevanin
INSERM U289, Institut Fédératif di Recherche des Neurosciences, Groupe Hospitalier Pitie Salpetriere, Paris, France
Adv Exp Med Biol 516:47-77. 2002
- Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in miceAlice 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...
- Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathyStephan 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...
- Spinocerebellar ataxia 13 and 25Giovanni 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...
- Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaMarie Coutelier
1 INSERM, U 1127, F 75013, Paris, France 2 CNRS, UMR 7225, F 75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F 75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F 75013, Paris, France 5 Laboratory of Human Molecular Genetics, de Duve Institute, Universite Catholique de Louvain, B 1200, Brussels, Belgium 6 Ecole Pratique des Hautes Etudes, F 75014, Paris, France
Brain 138:2191-205. 2015....
- Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6Sophie 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...
- Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyChristelle Tesson
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Univ Paris 06 UMR_S1127, EPHE, institut du cerveau et de la moelle épinière, CHU Pitie Salpetriere, 47 bd de l Hopital, 75013, Paris, France
Hum Genet 134:511-38. 2015....
- Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein contentJunko 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...
- Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotypeTomas S Aleman
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
Exp Eye Res 74:737-45. 2002....
- Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohortBart 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...
- Spectrin mutations cause spinocerebellar ataxia type 5Yoshio 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...
- Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assayClaudia 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...
- Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneityAlexander 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)...
- Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegiaChristel 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...
- NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in EuropeStephan Klebe
Neurogenetics 8:155-7. 2007
- A novel locus for autosomal recessive spastic ataxia on chromosome 17pNaima 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...
- The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patientsClaudia Cagnoli
Mov Disord 22:752-3. 2007
- A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genesMorwena 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...
- Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneityAmir 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)...
- A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSPChristel 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...
- SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutationRoberto 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...
- Spinocerebellar ataxia type 10 in the French populationHiroto Fujigasaki
Ann Neurol 51:408-9. 2002
- Spastic paraplegia 15: linkage and clinical description of three Tunisian familiesAmir 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...
- Asian origin for the worldwide-spread mutational event in Machado-Joseph diseaseSandra 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...
- Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypesMichael 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...
- A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A geneMichito Namekawa
Neurogenetics 7:131-2. 2006
- Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria 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...
- Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14Stephan Klebe
Arch Neurol 64:913-4. 2007
- Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndromeSylvain 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...