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Huntington’s Disease-Like 2

  • Roongroj Bhidayasiri
  • Daniel Tarsy
Chapter
Part of the Current Clinical Neurology book series (CCNEU)

Abstract

Huntington’s disease-like 2 (HDL2) is an autosomal dominant disease caused by a trinucleotide CTG/CAG repeat expansion in the gene for junctophilin-3 located on chromosome 16q24.3. It was initially described in a large African-American family in the southeastern United States. Subsequent studies have shown it to be a very rare cause of the Huntington’s disease (HD) phenotype which occurs almost exclusively in individuals of African descent. Clinically, HDL2 closely resembles HD and causes chorea, dystonia, dysarthria, disturbed gait and balance, psychiatric symptoms, dementia, and weight loss. Onset is usually in the fourth decade with gradual progression to death within 20 years.

Keywords

Involuntary Movement Repeat Expansion Autosomal Dominant Disease Cortical Atrophy African Descent 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

Huntington’s disease-like 2.mp4 (MP4 13,080KB)

The patient displays nearly continuous choreiform movements of her hands, fingers, and ankles, milder head movements, reduced facial expression, and impersistence of tongue protrusion.

References

  1. 1.
    Margolis RL, O’Hearn E, Rosenblatt A. A disorder similar to Huntington’s disease is associated with a novel CAG repeat expansion. Ann Neurol. 2001;50:373–80.CrossRefGoogle Scholar
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    Margolis RL, Holmes SE, Rosenblatt A, et al. Huntington’s disease-like 2 (HDL2) in North America and Japan. Ann Neurol. 2004;56:670–4.PubMedCrossRefGoogle Scholar
  3. 3.
    Greenstein PE, Vonsattel JG, Margolis RL, Joseph JT. Huntington’s disease-like-2 neuropathology. Mov Disord. 2007;22:1416–23.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Roongroj Bhidayasiri
    • 1
    • 2
  • Daniel Tarsy
    • 3
  1. 1.Chulalongkorn Center of Excellence on Parkinson’s Disease and Related DisordersChulalongkorn University HospitalBangkokThailand
  2. 2.Department of NeurologyDavid Geffen School of Medicine at UCLALos AngelesUSA
  3. 3.Department of NeurologyHarvard Medical School Beth Israel Deaconess Medical CenterBostonUSA

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