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Page 1
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (A …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia …
Spinocerebellar ataxia type 7.
Martin JJ. Martin JJ. Handb Clin Neurol. 2012;103:475-91. doi: 10.1016/B978-0-444-51892-7.00030-9. Handb Clin Neurol. 2012. PMID: 21827908 Review.
Spinocerebellar ataxia type 7 (SCA7) is associated with progressive blindness, dominant transmission, and marked anticipation. ...The gene maps to chromosome 3p12-p21.1. Normal values of CAG repeats range from 4 to 18. The SCA7 gene encodes a protein o …
Spinocerebellar ataxia type 7 (SCA7) is associated with progressive blindness, dominant transmission, and marked antici …
Spinocerebellar [corrected] Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics.
Du X, Gomez CM. Du X, et al. Adv Exp Med Biol. 2018;1049:147-173. doi: 10.1007/978-3-319-71779-1_7. Adv Exp Med Biol. 2018. PMID: 29427102 Review.
Spinocerebellar ataxia (SCA) type 6 is an autosomal dominant disease affecting cerebellar degeneration. ...Genetically, SCA6 is caused by expansion of a trinucleotide CAG repeat in the last exon of longest isoform CACNA1A gene on chromosome 19p13.1-p13.2. Nor …
Spinocerebellar ataxia (SCA) type 6 is an autosomal dominant disease affecting cerebellar degeneration. ...Genetically, …
Neuroimaging Biomarkers in SCA2 Gene Carriers.
Mascalchi M, Vella A. Mascalchi M, et al. Int J Mol Sci. 2020 Feb 4;21(3):1020. doi: 10.3390/ijms21031020. Int J Mol Sci. 2020. PMID: 32033120 Free PMC article. Review.
Proton MR spectroscopy reveals, in the pons and cerebellum of SCA2 gene carriers,a more pronounced degree of abnormal neurochemical profile compared to other spinocerebellar ataxias with decreased NAA/Cr and Cho/Cr, increased mi/Cr ratios, and decreased NAA and incr …
Proton MR spectroscopy reveals, in the pons and cerebellum of SCA2 gene carriers,a more pronounced degree of abnormal neurochemical profile …
Spinocerebellar ataxia type 1.
Zoghbi HY, Orr HT. Zoghbi HY, et al. Semin Cell Biol. 1995 Feb;6(1):29-35. doi: 10.1016/1043-4682(95)90012-8. Semin Cell Biol. 1995. PMID: 7620119 Review.
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disorder characterized by ataxia, dysarthria and progressive bulbar dysfunction. ...The repeat is a continuous CAG repeat tract on SCA1 chromosomes whereas in > or = 98 …
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disorder characterized by ataxia …
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.
Ceylan AC, Acar Arslan E, Erdem HB, Kavus H, Arslan M, Topaloğlu H. Ceylan AC, et al. Acta Neurol Belg. 2021 Dec;121(6):1457-1462. doi: 10.1007/s13760-020-01328-z. Epub 2020 Mar 13. Acta Neurol Belg. 2021. PMID: 32170608 Review.
Spinocerebellar ataxia type 18 (MIM 616204), one of the ARCA, is caused by the loss-of-function mutations of the GRID2 gene due to deletions. Missense mutations in the GRID2 cause ataxia with the gain-of-function mechanism. We report a homozygou …
Spinocerebellar ataxia type 18 (MIM 616204), one of the ARCA, is caused by the loss-of-function mutations of the …
Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias.
Hommersom MP, Buijsen RAM, van Roon-Mom WMC, van de Warrenburg BPC, van Bokhoven H. Hommersom MP, et al. Stem Cell Rev Rep. 2022 Feb;18(2):441-456. doi: 10.1007/s12015-021-10184-0. Epub 2021 May 25. Stem Cell Rev Rep. 2022. PMID: 34031815 Free PMC article. Review.
Dominant spinocerebellar ataxias (SCAs) constitute a large group of phenotypically and genetically heterogeneous disorders that mainly present with dysfunction of the cerebellum as their main hallmark. ...The advent of human induced pluripotent stem cells (hiPSCs) a …
Dominant spinocerebellar ataxias (SCAs) constitute a large group of phenotypically and genetically heterogeneous disorders tha …
BAG2 structure, function and involvement in disease.
Qin L, Guo J, Zheng Q, Zhang H. Qin L, et al. Cell Mol Biol Lett. 2016 Sep 20;21:18. doi: 10.1186/s11658-016-0020-2. eCollection 2016. Cell Mol Biol Lett. 2016. PMID: 28536620 Free PMC article. Review.
We also discuss its roles in diseases, including cancer, Alzheimer's disease, Parkinson's disease and spinocerebellar ataxia type-3. Further research on BAG2 could lead to an understanding of the pathogenesis of these disorders or even to novel therapeutic ap …
We also discuss its roles in diseases, including cancer, Alzheimer's disease, Parkinson's disease and spinocerebellar ataxia …
Deubiquitination and the regulation of stress granule assembly.
Nostramo R, Herman PK. Nostramo R, et al. Curr Genet. 2016 Aug;62(3):503-6. doi: 10.1007/s00294-016-0571-9. Epub 2016 Feb 6. Curr Genet. 2016. PMID: 26852120 Free PMC article. Review.
The presence of these RNP granules has been linked to a number of human diseases, including neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and spinocerebellar ataxia type 2 (Li et al., J Cell Biol 201:361-372, 2013; Nonhoff et al., Mol B …
The presence of these RNP granules has been linked to a number of human diseases, including neurodegenerative disorders like amyotrophic lat …
The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.
Beaudin M, Matilla-Dueñas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, Tsuji S, Schmahmann JD, Manto M, Rouleau GA, Klein C, Dupre N. Beaudin M, et al. Cerebellum. 2019 Dec;18(6):1098-1125. doi: 10.1007/s12311-019-01052-2. Cerebellum. 2019. PMID: 31267374 Free PMC article. Review.
These primary recessive ataxias were organized in a clinical and a pathophysiological classification, and we present a general clinical approach to the patient presenting with ataxia. We also identified a list of 48 complex multisystem disorders that are associated …
These primary recessive ataxias were organized in a clinical and a pathophysiological classification, and we present a general clinic …
15 results