| Literature DB >> 12030328 |
Valérie Delague1, Corinne Bareil, Patrice Bouvagnet, Nabiha Salem, Eliane Chouery, Jacques Loiselet, André Mégarbané, Mireille Claustres.
Abstract
Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.Entities:
Mesh:
Year: 2002 PMID: 12030328 DOI: 10.1007/s10048-001-0127-z
Source DB: PubMed Journal: Neurogenetics ISSN: 1364-6745 Impact factor: 2.660