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Neuronal Intranuclear Inclusion Disease Presenting as Juvenile Parkinsonism

Published online by Cambridge University Press:  02 December 2014

Katie M. Wiltshire ,
Christopher Dunham ,
Stuart Reid ,
Roland N. Auer  and
Oksana Suchowersky
Katie M. Wiltshire
Affiliation:
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta
Christopher Dunham
Affiliation:
Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Alberta
Stuart Reid
Affiliation:
Department of Internal Medicine, Queen's University, Kingston, Ontario, Canada
Roland N. Auer
Affiliation:
Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Alberta
Oksana Suchowersky*
Affiliation:
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta Department of Medical Genetics, University of Calgary, Calgary, Alberta
*
University of Calgary, 3350 Hospital Drive NW, Calgary, Alberta, T2N 4N1, Canada.
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Abstract

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Background:

Diagnostic considerations for juvenile onset Parkinsonism (onset at <21 years of age) include juvenile Huntington disease, Wilson disease, dentatorubral-pallidoluysian atrophy (DRPLA), storage diseases, and mitochondrial cytopathies. Neuronal Intranuclear Inclusion Disease (NIID) must also be considered.

Case Report:

We present a case of juvenile onset NIID with a predominantly Parkinsonian presentation, followed later by corticospinal, cerebellar, and lower motor neuron symptoms.

Conclusion:

Diagnosis of NIID can be made antemortem through rectal biopsy, however it was missed in this case. Rectal biopsy should be performed in all suspected cases, reviewed by an experienced neuropathologist and repeated if the suspicion for NIID is high. Pathologically, SUMO-1 immunohistochemistry appears to reliably label the neuronal inclusions and abnormal SUMOylation may play a part in the pathogenesis.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 37 , Issue 2 , March 2010 , pp. 213 - 218
Copyright
Copyright © The Canadian Journal of Neurological 2010

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