Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.
Neurology
; 43(11): 2179-83, 1993 Nov.
Article
en En
| MEDLINE
| ID: mdl-8232925
ABSTRACT
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.
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Banco de datos:
MEDLINE
Asunto principal:
Deficiencia de Vitamina E
/
Cromosomas Humanos Par 9
/
Ataxia de Friedreich
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Male
País/Región como asunto:
Africa
Idioma:
En
Revista:
Neurology
Año:
1993
Tipo del documento:
Article
País de afiliación:
Túnez