Clinical heterogeneity of recessive ataxia in the Mexican population.
J Neurol Neurosurg Psychiatry
; 77(12): 1370-2, 2006 Dec.
Article
en En
| MEDLINE
| ID: mdl-17110750
ABSTRACT
Approximately 75% of Indo-European patients with recessive ataxia are homozygous for frataxin gene (FXN) mutations and have either typical or atypical Friedreich ataxia (FRDA). Our previous analysis of 134 Mexican Mestizo recessive ataxia patients showed that FRDA is relatively uncommon in the Mexican population (10.4%). This article reports the evaluation of the phenotypes of these patients. Over half of the patients with clinical diagnostic criteria for FRDA did not carry FXN mutations, constituting a "FRDA-like" phenotypic subgroup. Analysis of non-FRDA patients revealed a subgroup with early onset recessive cerebellar ataxia and cognitive deficit. These two phenotypic subgroups accounted for approximately 60% of all patients, indicating that the cause for recessive ataxia in the Mexican population is distinct from other populations and remains largely unknown.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Ataxia de Friedreich
/
Trastornos del Conocimiento
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
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Middle aged
País/Región como asunto:
Mexico
Idioma:
En
Revista:
J Neurol Neurosurg Psychiatry
Año:
2006
Tipo del documento:
Article
País de afiliación:
Estados Unidos