Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.

ABSTRACT: A consanguineous family affected by an autosomal recessive, progressive neurodegenerative Huntington-like disorder, was tested to rule out juvenile-onset Huntington disease (JHD). The disease manifests at approximately 3-4 years and is characterized by both pyramidal and extrapyramidal abnormalities, including chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and intellectual impairment. Brain magnetic resonance imaging (MRI) findings include progressive frontal cortical atrophy and bilateral caudate atrophy. Huntington CAG trinucleotide-repeat analyses ruled out JHD, since all affected individuals had repeat numbers within the normal range. The presence of only four recombinant events (straight theta=.2) between the disease and the Huntington locus in 20 informativ

SUBMITTER: Kambouris M 

PROVIDER: S-EPMC1288097 | biostudies-literature | 2000 Feb

REPOSITORIES: biostudies-literature