Document Detail


Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy.
MedLine Citation:
PMID:  11708995     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: The spinocerebellar ataxias (SCAs) are clinically heterogeneous disorders caused by triplet repeat expansions in the sequence of specific disease genes. Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia with slow disease progression, presents with expansion of combined CTA/CTG repeats. OBJECTIVE: To perform SCA8 repeat expansion analysis in a heterogeneous group of ataxic patients, to determine the prevalence of this mutation in our patients and establish the frequency of expanded CTA/CTG repeats in a large group of control subjects. PATIENTS: One hundred sixty-seven patients affected by sporadic, autosomal dominant and recessive hereditary ataxia were clinically examined and analyzed for SCA8 expansion. We further studied 161 control subjects and 125 patients with psychiatric disorders. RESULTS: We found abnormally expanded CTA/CTG repeats in 5 ataxic patients, 3 of them characterized by pure cerebellar ataxia. One patient had vitamin E deficiency and 1 patient with a sporadic case was affected by gluten ataxia. No evidence of expanded alleles was found in healthy control subjects and in patients with psychiatric disorders. CONCLUSIONS: Our data support the evidence that CTG expansions may be linked to SCA8, since the pathogenic expansions have been found only among patients with genetically unidentified forms of hereditary and sporadic ataxia. Patients carrying expanded alleles present peculiar phenotypic features, thus suggesting that unknown additional factors could probably predispose to the disease.
Authors:
E Cellini; B Nacmias; P Forleo; S Piacentini; B M Guarnieri; A Serio; A Calabrò; D Renzi; S Sorbi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Archives of neurology     Volume:  58     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2001 Nov 
Date Detail:
Created Date:  2001-11-15     Completed Date:  2001-12-07     Revised Date:  2010-09-22    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1856-9     Citation Subset:  AIM; IM    
Affiliation:
Department of Neurological and Psychiatric Sciences, University of Florence, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Female
Genetic Predisposition to Disease
Humans
Italy
Male
Middle Aged
Nerve Tissue Proteins / genetics*
Pedigree
Phenotype
Spinocerebellar Ataxias / genetics*,  physiopathology
Trinucleotide Repeat Expansion*
Chemical
Reg. No./Substance:
0/ATXN8OS gene product, human; 0/Nerve Tissue Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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