Document Detail


Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.
MedLine Citation:
PMID:  8232925     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, the disease locus (FRDA) of which has been assigned to 9q13-q21.1 by genetic linkage analysis in affected families. We report two large inbred Tunisian families with FA manifestations that did not show the expected linkage. The disease locus could be excluded from a large (12 cMo) region around FRDA. This is the first report providing evidence for nonallelic genetic heterogeneity for the FA clinical phenotype. On subsequent analysis, all patients had very low levels of serum vitamin E whereas the parents and healthy sibs had normal vitamin E levels. This establishes that the selective vitamin E deficiency with normal fat absorption is an autosomal recessive trait, which is associated in the two families reported here with the FA phenotype.
Authors:
M Ben Hamida; S Belal; G Sirugo; C Ben Hamida; K Panayides; P Ionannou; J Beckmann; J L Mandel; F Hentati; M Koenig
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  43     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1993-12-20     Completed Date:  1993-12-20     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2179-83     Citation Subset:  AIM; IM    
Affiliation:
Institut National de Neurologie, Tunis, Tunisia.
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosomes, Human, Pair 9*
Consanguinity
Female
Friedreich Ataxia / complications,  genetics*
Humans
Linkage (Genetics)
Lod Score
Male
Phenotype
Tunisia
Vitamin E Deficiency / complications,  genetics*
Comments/Corrections
Comment In:
Neurology. 1993 Nov;43(11):2167-9   [PMID:  8232922 ]

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


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