Document Detail


CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study.
MedLine Citation:
PMID:  9748675     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2 phenotype. In the present cases, early onset and mental deterioration were important additional findings. Nerve biopsy findings were compatible with a chronic axonopathy. We found a direct correlation between length of triplet expansion and severity of the clinical symptoms. Of particular interest is the late-onset phenotypical expression in a patient with 34 repeats.
Authors:
A Malandrini; L Galli; M Villanova; S Palmeri; E Parrotta; D DeFalco; M Cappelli; G S Grieco; A Renieri; G Guazzi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European neurology     Volume:  40     ISSN:  0014-3022     ISO Abbreviation:  Eur. Neurol.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-02-16     Completed Date:  1999-02-16     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0150760     Medline TA:  Eur Neurol     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  164-8     Citation Subset:  IM    
Affiliation:
Institute of Neurological Sciences, University of Siena, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adult
Biopsy
Brain / pathology
Dinucleotide Repeats / genetics*
Female
Humans
Italy
Magnetic Resonance Imaging
Male
Middle Aged
Pedigree
Phenotype
Spinocerebellar Degenerations / diagnosis,  genetics*
Sural Nerve / pathology

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


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