Journal ArticleDOI
Childhood‐onset ataxia: Testing for large CAG‐repeats in SCA2 and SCA7
Rong Mao,Arthur S. Aylsworth,Nicholas T. Potter,William G. Wilson,Galen Breningstall,Myra J. Wick,Dusica Babovic-Vuksanovic,Martha Nance,Marc C. Patterson,Christopher M. Gomez,Karen Snow +10 more
TLDR
An assay based on separation of PCR products on an agarose gel, blotting, and hybridization with a (CAG)6 oligonucleotide probe was used to test DNA from individuals more than 10 years of age who had a possible diagnosis of SCA, and provided reliable detection of extreme expansion mutations.Abstract:
Infantile- and juvenile-onset spinal cerebellar ataxia (SCA) is associated with expansion of 130 to more than 200 CAG-repeats in the SCA2 and SCA7 genes. Routine clinical assays for SCA2 and SCA7, which use polymerase chain reaction (PCR) and denaturing PAGE (polyacrylamide gel electrophoresis), will not reliably detect such large expansions. An assay based on separation of PCR products on an agarose gel, blotting, and hybridization with a (CAG)6 oligonucleotide probe was used to test DNA from individuals more than 10 years of age who had a possible diagnosis of SCA. Among 25 cases, the PCR-blot assay confirmed the presence of SCA2 expansions between 230 and 500 repeats in four unrelated individuals, but did not detect any cases of extreme expansion in the SCA7 gene. The PCR-blot assay provides reliable detection of extreme expansion mutations. Routine incorporation of this assay in clinical laboratories may reveal that infantile-juvenile forms of SCA2 and SCA7 are more prevalent than previously recognized.read more
Citations
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Journal ArticleDOI
Microsatellites Within Genes: Structure, Function, and Evolution
TL;DR: SSRs within genes evolve through mutational processes similar to those for SSRs located in other genomic regions including replication slippage, point mutation, and recombination and may provide a molecular basis for fast adaptation to environmental changes in both prokaryotes and eukaryotes.
SHORT REVIEW EST-SSRs as a resource for population genetic analyses
TL;DR: It is concluded that half of all suitable EST databases could be exploited for the population genetic analysis of species of conservation concern and the advantages and disadvantages of EST-SSRs in the context of population genetic applications are discussed.
Journal ArticleDOI
EST-SSRs as a resource for population genetic analyses.
Jennifer R. Ellis,John M. Burke +1 more
TL;DR: In this paper, the authors review what is known about the transferability of EST-SSRs from one taxon to another with particular reference to the potential of these markers to facilitate population genetic studies and conclude that half of all suitable EST databases could be exploited for the population genetic analysis of species of conservation concern.
Journal ArticleDOI
Spinocerebellar ataxia 2 (SCA2).
TL;DR: This review aims to portray the particular profile of the SCA2 disease process and correlate it to the specific features of ataxin-2, a subcellular localization at the Golgi, the endoplasmic reticulum and the plasma membrane.
Journal ArticleDOI
The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies
Peter O. Bauer,Nobuyuki Nukina +1 more
TL;DR: Relevance of disease models and recent knowledge of therapeutic possibilities is reviewed, and certain pathomechanistic aspects of PolyQ disorders are discussed here.
References
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Journal ArticleDOI
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.
Alexandra Herman-Bert,Giovanni Stevanin,Jean-Claude Netter,Olivier Rascol,David Brassat,Patrick Calvas,Agnès Camuzat,Qiu-Ping Yuan,Martin Schalling,Alexandra Durr,Alexis Brice +10 more
TL;DR: A large French family with autosomal dominant cerebellar ataxia (ADCA) that was excluded from all previously identified spinocerebellarAtaxia genes and loci is examined, finding significant evidence for linkage to chromosome 19q13.3- q13.4.
Journal ArticleDOI
Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.
PF Worth,Paola Giunti,Christopher Gardner-Thorpe,Peter H. Dixon,Mary B. Davis,Nicholas W. Wood +5 more
TL;DR: Results indicate the presence of two additionalADCA III loci and more clearly define the genetic heterogeneity of ADCA III.
Journal ArticleDOI
A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2‐cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4‐qter
I Yamashita,H. Sasaki,Ichiro Yabe,Toshiyuki Fukazawa,Shinji Nogoshi,Katsuhide Komeichi,Akio Takada,Kazuya Shiraishi,Yoshihisa Takiyama,Masatoyo Nishizawa,Jin Kaneko,Hajime Tanaka,Shoji Tsuji,Kunio Tashiro +13 more
TL;DR: Systematic linkage analysis in a three‐generation Japanese family with a locus or mutation that differed from those of known spinocerebellar ataxias found that atrophy was confined to the cerebellum and the family members with a late onset exhibited pure cerebellarAtaxia first showed intermittent axial myoclonus followed by ataxia.
Journal ArticleDOI
Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington’s disease
TL;DR: This case emphasizes the need for communication between the diagnostic laboratory and the clinician to define the molecular genetics of unusual cases.
Journal ArticleDOI
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.
TL;DR: Analysis of the clinical features in the patients with SCA7 confirmed that the most frequently associated features are pigmentary maculopathy, pyramidal tract involvement, and slow saccades, and it is provided evidence that these repeats represent intermediate alleles that are prone to further expansion.
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