Huntington's disease presenting as amyotrophic lateral sclerosis.

Hdl Handle:
http://hdl.handle.net/10147/127462
Title:
Huntington's disease presenting as amyotrophic lateral sclerosis.
Authors:
Phukan, Julie; Ali, Elfatih; Pender, Niall P; Molloy, Fiona; Hennessy, Michael; Walsh, Ronan J; Hardiman, Orla
Affiliation:
Department of Neurology, Beaumont Hospital, Dublin, Ireland. juliephukan@yahoo.co.uk
Citation:
Huntington's disease presenting as amyotrophic lateral sclerosis. 2010, 11 (4):405-7 Amyotroph Lateral Scler
Journal:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Issue Date:
Aug-2010
URI:
http://hdl.handle.net/10147/127462
DOI:
10.1080/17482960903055958
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.
Item Type:
Article
Language:
en
MeSH:
Amyotrophic Lateral Sclerosis; Humans; Huntington Disease; Male; Middle Aged
ISSN:
1471-180X

Full metadata record

DC FieldValue Language
dc.contributor.authorPhukan, Julieen
dc.contributor.authorAli, Elfatihen
dc.contributor.authorPender, Niall Pen
dc.contributor.authorMolloy, Fionaen
dc.contributor.authorHennessy, Michaelen
dc.contributor.authorWalsh, Ronan Jen
dc.contributor.authorHardiman, Orlaen
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-

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