Journal ArticleDOI
Ataxia and progressive encephalopathy in a 4-year-old girl
Michael D. Spears,Shelby D. Melton,Qinwen Mao,Deborah A. Payne,Dinesh Rakheja,Kimmo J. Hatanpaa,Dennis K. Burns,Jorge Sequeiros,Isabel Alonso +8 more
Reads0
Chats0
TLDR
A case of spinocerebellar ataxia type 2 (SCA2) in a 4-year-old girl with false-negative conventional PCR results is reported, caused by a CAG repeat within the ATXN2 gene on chromosome 12.Abstract:
The spinocerebellar ataxias (SCAs) are a rare group of neurodegenerative disorders with progressive cerebellar ataxia as the primary feature. These disorders are phenotypically and genetically variable, both between and within subtypes. Seven of the SCA subtypes are caused by CAG trinucleotide repeats within the respective genes, and clinically most of these diseases demonstrate anticipation. Testing for these disorders typically relies upon conventional polymerase chain reaction (PCR) and fragment analysis. However, conventional PCR may give false-negative results in cases in which the CAG expansion is unusually long. We report a case of spinocerebellar ataxia type 2 (SCA2) in a 4-year-old girl with false-negative conventional PCR results. Specifically, the SCA2 disorder is caused by a CAG repeat within the ATXN2 gene on chromosome 12. Subsequent confirmatory testing using modified PCR and primers specific for the CAG repeat were performed and revealed an expanded allele with 109 repeats in our patient.read more
Citations
More filters
Journal ArticleDOI
Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles
José Miguel Laffita-Mesa,Luis Velázquez-Pérez,Nieves Santos Falcón,Tania Cruz-Mariño,Yanetza González Zaldívar,Yaimeé Vázquez Mojena,Dennis Almaguer-Gotay,Luis Enrique Almaguer Mederos,Roberto Rodríguez Labrada +8 more
TL;DR: The frequency of large ANs in the ataxin-2 gene is the highest worldwide, although short ANs are also frequent, and this highly polymorphic population displayed also high variability in the CAG sequence, featured by loss of the anchor CAA interruption(s).
References
More filters
Journal ArticleDOI
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
Stefan M. Pulst,Alex Nechiporuk,Alex Nechiporuk,Tamilla Nechiporuk,Tamilla Nechiporuk,Suzana Gispert,Xiao Ning Chen,Iscia Lopes-Cendes,Susan Pearlman,Sidney Starkman,Guillermo Orozco-Diaz,Astrid Lunkes,Pieter DeJong,Guy A. Rouleau,Georg Auburger,Julie R. Korenberg,Carla P. Figueroa,Carla P. Figueroa,Soodabeh Sahba,Soodabeh Sahba +19 more
TL;DR: A CAG trinucleotide repeat with CAA interruptions that was expanded in patients with SCA2, which is a member of a novel gene family and not highly polymorphic in normal individuals is identified.
Journal ArticleDOI
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
TL;DR: The identification of ataxia genes raises hope that essential pathogenetic mechanisms causing SCA will become more and more apparent, and will enable the development of rational therapies for this group of disorders, which currently can only be treated symptomatically.
Journal ArticleDOI
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Michael D. Koob,Melinda L. Moseley,Lawrence J. Schut,Kellie A. Benzow,Thomas D. Bird,John W. Day,Laura P.W. Ranum +6 more
TL;DR: It is reported that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8), which is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.