Description:
SPINOCEREBELLAR ATAXIA 1; SCA1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
3.96 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
ATXN1 |
| Chromosomal Location |
6p13 |
| Allelic Variant 1 |
601556.0001; SPINAL CEREBELLAR ATAXIA 1; SCA1 |
| Identified Mutation |
(CAG)n EXPANSION; The cause of spinal cerebellar ataxia 1 (SCA1; 164400) is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p (Orr et al., 1993; Banfi et al., 1994). Most unexpanded alleles have an interrupted repeat configuration, whereas a contiguous repeat (CAG)n is found in expanded alleles. The repeat instability in SCA1 is probably more complex than a simple variation in repeat number; the loss of an interruption predisposes the SCA1 (CAG)n repeat to expansion.
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| Remarks |
Olivopontocerebellar atrophy type I; spinocerebellar ataxia; 6 affected generations; analysis of ATXN1 (ATX1) alleles showed normal allele with 29 CAG repeats and expanded allele with 52 repeats; see GM06926 (same subject B-lymphocyte). |
| Zhang N, Bewick B, Schultz J, Tiwari A, Krencik R, Zhang A, Adachi K, Xia G, Yun K, Sarkar P, Ashizawa T, DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics: 2021 |
| PubMed ID: 34160773 |
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| Kourkouta E, Weij R, González-Barriga A, Mulder M, Verheul R, Bosgra S, Groenendaal B, Puoliväli J, Toivanen J, van Deutekom JCT, Datson NA, Suppression of Mutant Protein Expression in SCA3 and SCA1 Mice Using a CAG Repeat-Targeting Antisense Oligonucleotide Molecular therapy Nucleic acids17:601-614 2019 |
| PubMed ID: 31394429 |
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| Evers MM, Pepers BA, van Deutekom JC, Mulders SA, den Dunnen JT, Aartsma-Rus A, van Ommen GJ, van Roon-Mom WM, Targeting several CAG expansion diseases by a single antisense oligonucleotide PloS one6:e24308 2011 |
| PubMed ID: 21909428 |
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| Jackson JF, Currier RD, Terasaki PI, Morton NE, Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med296:1138-41 1977 |
| PubMed ID: 857157 |
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| Currier RD, Glover G, Jackson JF, Tipton AC, Spinocerebellar ataxia: study of a large kindred. I. General information and genetics. Neurology22:1040-3 1972 |
| PubMed ID: 4673259 |
| Passage Frozen |
4 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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