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High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.
Bouhouche, A; Benomar, A; Birouk, N; Bouslam, N; Ouazzani, R; Yahyaoui, M; Chkili, T.
Afiliación
  • Bouhouche A; Laboratoire de Neurogénétique, Service de Neurologie, Hôpital des Spécialités, BP 6220, Rabat-Instituts, Morocco. abouhouche@hotmail.com
J Neurol ; 250(10): 1209-13, 2003 Oct.
Article en En | MEDLINE | ID: mdl-14586604
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuropathy characterized by selective degeneration of anterior horn cells of the spinal cord. Childhood SMA is divided into three types (I-III) on the basis of age of onset and severity. These disorders have been linked to the 5q13 region, where mutations in the Survival Motor Neuron 1 (SMN1) gene have been found in affected individuals. In the case of adult-onset SMA (type IV), on the other hand, reports of homozygous absence of SMN1 gene have been rare. We conducted deletion analysis of SMN and a neighboring gene, NAIP (neuronal apoptosis inhibiting protein). Among 54SMA patients (types I-IV), all of Moroccan origin, Exon 7 of the SMN1 gene was homozygously absent in 100% of type I, 90% of type II, 74% of type III and 80% of type IV SMA patients. Deletion of SMN1 exon 8 was detected in 100% of type I, 53% of type II, 53% of type III and 80% of type IV patients. NAIP exon 5 was homozygously deleted in 67% of type I, 32% of type II, 5% of type III and 20% of type IV SMA patients. Thirty control individuals who were studied had normal SMN1 and NAIP genes. Our results show a high incidence of SMN1 gene deletion in adult-onset SMA patients indicating that SMN1 is the autosomal recessive adult SMA-causing gene. While NAIP is commonly deleted in SMA, this is unlikely to affect disease severity; it was deleted in two adult SMA patients with mild phenotypes.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Eliminación de Gen / Proteínas del Tejido Nervioso Tipo de estudio: Incidence_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Africa Idioma: En Revista: J Neurol Año: 2003 Tipo del documento: Article País de afiliación: Marruecos Pais de publicación: Alemania
Buscar en Google
Añadir a Mi BVS
Imprimir
XML
PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Eliminación de Gen / Proteínas del Tejido Nervioso Tipo de estudio: Incidence_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Africa Idioma: En Revista: J Neurol Año: 2003 Tipo del documento: Article País de afiliación: Marruecos Pais de publicación: Alemania