Huntington's disease presenting as amyotrophic lateral sclerosis.
Pender, Niall P
Walsh, Ronan J
AffiliationDepartment of Neurology, Beaumont Hospital, Dublin, Ireland. email@example.com
MeSHAmyotrophic Lateral Sclerosis
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CitationHuntington's disease presenting as amyotrophic lateral sclerosis. 2010, 11 (4):405-7 Amyotroph Lateral Scler
JournalAmyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
AbstractWe present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington's disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington's disease. This case confirms the rare coexistence of Huntington's disease and motor neuron degeneration.
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