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Homozygous Machado Joseph Disease: A Case Report and Review of Literature

Published online by Cambridge University Press:  02 December 2014

Liudmila Lysenko ,
Raji P. Grewal ,
Wei Ma  and
Leema Reddy Peddareddygari
Liudmila Lysenko
Affiliation:
JFK Medical Center, New Jersey Neuroscience Institute, Edison, New Jersey, U.S.A
Raji P. Grewal
Affiliation:
JFK Medical Center, New Jersey Neuroscience Institute, Edison, New Jersey, U.S.A
Wei Ma
Affiliation:
JFK Medical Center, New Jersey Neuroscience Institute, Edison, New Jersey, U.S.A
Leema Reddy Peddareddygari*
Affiliation:
JFK Medical Center, New Jersey Neuroscience Institute, Edison, New Jersey, U.S.A
*
Laboratory of Neurogenetics, New Jersey Neuroscience Institute/JFK Medical Center, 65 James Street, Edison, New Jersey, 08820, U.S.A.
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Abstract

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Type
Brief Communications
Information
Canadian Journal of Neurological Sciences , Volume 37 , Issue 4 , July 2010 , pp. 521 - 523
Copyright
Copyright © The Canadian Journal of Neurological 2010

References

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3. Lang, AE, Rogaeva, EA, Tsuda, T, Hutterer, J, St George-Hyslop, P. Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol. 1994 Sep; 36(3):443–7.Google Scholar
4. Sobue, G, Doyu, M, Nakao, N, Shimada, N, Mitsuma, T, Maruyama, H, et al. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity. J Neurol Neurosurg Psychiatry. 1996 Mar; 60(3):354–6.CrossRefGoogle ScholarPubMed
5. Lerer, I, Merims, D, Abeliovich, D, Zlotogora, J, Gadoth, N. Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Hum Genet. 1996; 4(1):3–7.Google Scholar
6. Fukutake, T, Shinotoh, H, Nishino, H, Ichikawa, Y, Goto, J, Kanazawa, I, et al. Homozygous Machado-Joseph disease presenting as REM sleep behaviour disorder and prominent psychiatric symptoms. Eur J Neurol. 2002 Jan; 9(1):97–100.CrossRefGoogle ScholarPubMed
7. Coutinho, P, Guimarães, A, Scaravilli, F. The pathology of Machado-Joseph disease. Report of a possible homozygous case. Acta Neuropathol. 1982; 58(1):48–54.Google Scholar