These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Huntington's disease presenting as amyotrophic lateral sclerosis.
    Author: Phukan J, Ali E, Pender NP, Molloy F, Hennessy M, Walsh RJ, Hardiman O.
    Journal: Amyotroph Lateral Scler; 2010 Aug; 11(4):405-7. PubMed ID: 19530012.
    Abstract:
    We 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.
    [Abstract] [Full Text] [Related] [New Search]