Genetically confirmed Huntington's disease masquerading as motor neuron disease

Movement Disorders : Official Journal of the Movement Disorder Society
Kazuaki KanaiTakamichi Hattori

Abstract

We describe a patient with Huntington's disease (HD) who showed asymmetrical upper limb amyotrophy as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain as-yet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis.

References

Mar 26, 1999·Movement Disorders : Official Journal of the Movement Disorder Society·N GeorgiouJ G Phillips
Mar 29, 2002·Movement Disorders : Official Journal of the Movement Disorder Society·Pierre-François PradatVincent Meininger
Aug 27, 2004·Brain : a Journal of Neurology·C M Everett, N W Wood

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Citations

Dec 17, 2009·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Jessica MandrioliPatrizia Sola
Jul 31, 2014·Acta neurologica Belgica·Josef Finsterer, Rahim Aliyev
Jan 27, 2017·Movement Disorders : Official Journal of the Movement Disorder Society·Ming ZhangMaria Carmela Tartaglia
Nov 15, 2017·Acta Neuropathologica·Isabelle St-AmourSébastien S Hébert
Jul 19, 2013·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Suresh Kumar ChhetriTahir Majeed

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