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

@article{Kambouris2000LocalizationOT,
  title={Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.},
  author={Marios Kambouris and Saeed Bohlega and Abdulrahman Y Al-Tahan and Brian Francis Meyer},
  journal={American journal of human genetics},
  year={2000},
  volume={66 2},
  pages={445-52}
}
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… CONTINUE READING

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