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Benign hereditary chorea.

Galit Kleiner-Fisman1

  • 1Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital and Baycrest Geriatric Hospital, University of Toronto, Toronto, Canada. gkleinerfisman@yahoo.com

Handbook of Clinical Neurology
|April 19, 2011
PubMed
Summary
This summary is machine-generated.

Benign hereditary chorea (BHC) is a rare movement disorder. Recent research links BHC to the TITF-1 gene, expanding its known symptoms to include brain, thyroid, and lung issues.

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Area of Science:

  • Neurology
  • Genetics
  • Developmental Biology

Background:

  • Benign hereditary chorea (BHC) is a childhood-onset hyperkinetic movement disorder.
  • Historically characterized as nonprogressive and dominantly inherited with normal intelligence.
  • Atypical features and the identification of the TITF-1 gene have expanded the understanding of BHC.

Purpose of the Study:

  • To review the historical literature and current understanding of Benign hereditary chorea.
  • To explore the genetic basis and expanded phenotype of BHC.
  • To discuss the proposed pathophysiologic mechanisms and diagnostic complexities.

Main Methods:

  • Literature review of historical and current research on Benign hereditary chorea.
  • Analysis of genetic findings, including the identification of the TITF-1 gene.
  • Examination of clinical phenotypes, including neurological, thyroid, and lung abnormalities.

Main Results:

  • The TITF-1 gene has been identified as causative in some BHC cases.
  • The BHC phenotype has expanded to include "brain-thyroid-lung syndrome."
  • Pathophysiology may involve protein haploinsufficiency or dominant negative effects; genotype-phenotype correlations are complex.

Conclusions:

  • Benign hereditary chorea is a complex familial developmental disorder with an evolving phenotype.
  • The TITF-1 gene plays a significant role in certain BHC cases.
  • Further research is needed to fully elucidate the genotype-phenotype correlations and underlying mechanisms.