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dc.contributor.authorPhukan, Julie
dc.contributor.authorAli, Elfatih
dc.contributor.authorPender, Niall P
dc.contributor.authorMolloy, Fiona
dc.contributor.authorHennessy, Michael
dc.contributor.authorWalsh, Ronan J
dc.contributor.authorHardiman, Orla
dc.date.accessioned2011-04-06T14:49:50Z
dc.date.available2011-04-06T14:49:50Z
dc.date.issued2010-08
dc.identifier.citationHuntington's disease presenting as amyotrophic lateral sclerosis. 2010, 11 (4):405-7 Amyotroph Lateral Scleren
dc.identifier.issn1471-180X
dc.identifier.pmid19530012
dc.identifier.doi10.1080/17482960903055958
dc.identifier.urihttp://hdl.handle.net/10147/127462
dc.description.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.
dc.language.isoenen
dc.subject.meshAmyotrophic Lateral Sclerosis
dc.subject.meshHumans
dc.subject.meshHuntington Disease
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.titleHuntington's disease presenting as amyotrophic lateral sclerosis.en
dc.typeArticleen
dc.contributor.departmentDepartment of Neurology, Beaumont Hospital, Dublin, Ireland. juliephukan@yahoo.co.uken
dc.identifier.journalAmyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseasesen
dc.description.provinceLeinster
html.description.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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