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
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.
Susan E. Holmes,Elizabeth O'Hearn,Melvin G. McInnis,Daniel A. Gorelick-Feldman,John J. Kleiderlein,Colleen Callahan,Noeun G. Kwak,Roxann G. Ingersoll-Ashworth,M. Sherr,August J. Sumner,Alan H. Sharp,Uma Ananth,William K. Seltzer,Michael A. Boss,Ana Maria Vieria-Saecker,Jörg T. Epplen,Olaf Riess,Christopher A. Ross,Russell L. Margolis +18 more
TL;DR: A novel form of autosomal dominant SCA is identified in a large pedigree ('R') of German descent, termed SCA12, which resembles the spinocerebellar ataxias more closely than any other form of neurodegenerative disorder.
Journal ArticleDOI
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.
TL;DR: The clinical features of 11 families containing 73 individuals with dominantly inherited cerebellar ataxia of late onset and an analysis of clustering of clinical features within families using X2 tests suggested that there was little evidence of genetic heterogeneity in the eight kindreds.
Journal ArticleDOI
Molecular and Clinical Correlations in Autosomal Dominant Cerebellar Ataxia with Progressive Macular Dystrophy (SCA7)
Gilles David,Alexandra Durr,Giovanni Stevanin,Géraldine Cancel,Nacer Abbas,Ali Benomar,Samir Belal,Anne-Sophie Lebre,Myriem Abada-Bendib,D. Grid,Monica Holmberg,Mohamed Yahyaoui,Fayçal Hentati,T. Chkili,Yves Agid,Alexis Brice +15 more
TL;DR: The mutation was highly unstable during transmission, with a mean increase of 10 +/- 16 CAG repeats, which was significantly greater in paternal than in maternal transmissions, and correlated well with the marked anticipation observed in the families.
Journal ArticleDOI
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
TL;DR: Data show a wide spectrum of phenotypic abnormalities in SCA-7 and define an infantile phenotype caused by the largest CAG repeat expansion described to date.
Journal ArticleDOI
Expanded CAG Repeats in Swedish Spinocerebellar Ataxia Type 7 (SCA7) Patients: Effect of CAG Repeat Length on the Clinical Manifestation
Jenni Johansson,Lars Forsgren,Ola Sandgren,Alexis Brice,Gösta Holmgren,Monica Holmberg,Monica Holmberg +6 more
TL;DR: All Swedish SCA7 patients exhibited expanded CAG repeats with a strong negative correlation between repeat size and age of onset, suggesting the possibility of a founder effect in the Swedish population.
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