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
The Multiple Faces of Spinocerebellar Ataxia type 2.
Antonella Antenora,Carlo Rinaldi,Alessandro Roca,Chiara Pane,Maria Lieto,Maria Lieto,Francesco Saccà,Silvio Peluso,Giuseppe De Michele,Alessandro Filla +9 more
TL;DR: Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families, and occurrence is higher in specific populations such as the Cuban and Southern Italian.
Journal ArticleDOI
Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7.
Heather Trang,Sabrina Y. Stanley,Paul S. Thorner,Hannaneh Faghfoury,Andreas Schulze,Cynthia Hawkins,Christopher E. Pearson,Grace Yoon +7 more
TL;DR: The first case to date of maternally transmitted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract of CAG45 expands to lengths as large as (CAG)92-250 is reported, which has implications for diagnosis and counseling among families of patients with SCA7.
Journal ArticleDOI
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
Claudia Cagnoli,Alessandro Brussino,Cecilia Mancini,Marina Ferrone,Laura Orsi,Paola Salmin,Patrizia Pappi,Elisa Giorgio,Elisa Pozzi,Simona Cavalieri,Eleonora Di Gregorio,Marta Ferrero,Alessandro Filla,Giuseppe De Michele,Cinzia Gellera,Caterina Mariotti,Suran Nethisinghe,Paola Giunti,Giovanni Stevanin,Alfredo Brusco +19 more
TL;DR: The efficacy of a novel, rapid, and cost-effective method to identify and size pathogenic expansions in SCA1, 2, 3, 6, and 7 and recognize large alleles or interruptions without a second-level test is shown.
Journal ArticleDOI
Infantile childhood onset of spinocerebellar Ataxia type 2
Roberto Di Fabio,Filippo M. Santorelli,Enrico Bertini,Martina Balestri,Laura Cursi,Alessandra Tessa,Francesco Pierelli,Carlo Casali +7 more
TL;DR: The case of a 1-year-old girl who presented with facial dysmorphism, dystonic features, developmental delay, and retinitis pigmentosa in early childhood should prompt a careful family investigation for ataxia and study of ATX2.
Journal ArticleDOI
Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement
Jessica L. Klein,Monica E. Lemmon,Frances J. Northington,Eugen Boltshauser,Thierry A. G. M. Huisman,Andrea Poretti +5 more
TL;DR: In this article, a focus on how characterization of cerebellar involvement can facilitate accurate diagnosis and improved accuracy of neuro-functional prognosis is focused on.
References
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Journal ArticleDOI
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Yoshiya Kawaguchi,Toshihiro Okamoto,Masafumi Taniwaki,Megumi Aizawa,Miho Inoue,Sadao Katayama,Hideshi Kawakami,Shigenobu Nakamura,Masaki Nishimura,Ichiro Akiguchi,Jun Kimura,Shuh Narumiya,Akira Kakizuka +12 more
TL;DR: Southern blot analyses and genomic cloning demonstrates the existence of related genes, raising the possibility that similar abnormalities in related genes may give rise to diseases similar to Machado-Joseph disease.
Journal ArticleDOI
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Harry T. Orr,Ming Yi Chung,Sandro Banfi,Thomas J. Kwiatkowski,Antonio Servadio,Arthur L. Beaudet,Alanna E. McCall,Lisa A. Duvick,Laura P.W. Ranum,Huda Y. Zoghbi +9 more
TL;DR: There is a direct correlation between the size of the (CAG)n repeat expansion and the age–of–onset of SCA1, with larger alleles occurring in juvenile cases.
Journal ArticleDOI
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α(1A)-voltage-dependent calcium channel
Olga Zhuchenko,Jennifer Bailey,Penelope E. Bonnen,T. Ashizawa,T. Ashizawa,David W. Stockton,Christopher I. Amos,William B. Dobyns,S. H. Subramony,Huda Y. Zoghbi,Cheng Chi Lee +10 more
TL;DR: It is concluded that a small polyglutamine expansion in the human α1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.
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 Article
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
Alessandro Filla,G. De Michele,F Cavalcanti,Luigi Pianese,Antonella Monticelli,Giuseppe Campanella,Sergio Cocozza +6 more
TL;DR: The length of FA alleles ranged from 201 to 1,186 repeat units, with no overlap with the normal range, and showed a negatively skewed distribution with a peak between 800 and 1,000 repeats, and the FA repeat showed meiotic instability with a median variation of 150 repeats.
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