Article
Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.
American journal of human genetics - 1 Feb 2000
Kambouris M, Bohlega S, Al-Tahan A, Meyer B F
Abstract excerpt
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....
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