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Huntington's disease presenting as amyotrophic lateral sclerosis.
Amyotroph Lateral Scler. 2010 Aug; 11(4):405-7.AL

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.

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Authors+Show Affiliations

Phukan J
Department of Neurology, Beaumont Hospital, Dublin, Ireland. juliephukan@yahoo.co.uk
Ali E
No affiliation info available
Pender NP
No affiliation info available
Molloy F
No affiliation info available
Hennessy M
No affiliation info available
Walsh RJ
No affiliation info available
Hardiman O
No affiliation info available

MeSH

Amyotrophic Lateral SclerosisHumansHuntington DiseaseMaleMiddle Aged

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19530012

Citation

Phukan, Julie, et al. "Huntington's Disease Presenting as Amyotrophic Lateral Sclerosis." Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases, vol. 11, no. 4, 2010, pp. 405-7.
Phukan J, Ali E, Pender NP, et al. Huntington's disease presenting as amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2010;11(4):405-7.
Phukan, J., Ali, E., Pender, N. P., Molloy, F., Hennessy, M., Walsh, R. J., & Hardiman, O. (2010). Huntington's disease presenting as amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases, 11(4), 405-7. https://doi.org/10.1080/17482960903055958
Phukan J, et al. Huntington's Disease Presenting as Amyotrophic Lateral Sclerosis. Amyotroph Lateral Scler. 2010;11(4):405-7. PubMed PMID: 19530012.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Huntington's disease presenting as amyotrophic lateral sclerosis. AU - Phukan,Julie, AU - Ali,Elfatih, AU - Pender,Niall P, AU - Molloy,Fiona, AU - Hennessy,Michael, AU - Walsh,Ronan J, AU - Hardiman,Orla, PY - 2009/6/17/entrez PY - 2009/6/17/pubmed PY - 2010/9/24/medline SP - 405 EP - 7 JF - Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases JO - Amyotroph Lateral Scler VL - 11 IS - 4 N2 - 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. SN - 1471-180X UR - https://www.unboundmedicine.com/medline/citation/19530012/Huntington's_disease_presenting_as_amyotrophic_lateral_sclerosis_ L2 - https://www.tandfonline.com/doi/full/10.1080/17482960903055958 DB - PRIME DP - Unbound Medicine ER -