Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism.

Abstract

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.

• Authors: Katie M Wiltshire, Christopher Dunham, Stuart Reid, Roland N Auer, Oksana Suchowersky
• Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (Can J Neurol Sci) Vol. 37 Issue 2 Pg. 213-8 (Mar 2010) ISSN: 0317-1671 [Print] England
• PMID: 20437931 (Publication Type: Case Reports, Journal Article)

Chemical References

• Antigens, CD
• Ki-67 Antigen
• Nerve Tissue Proteins
• Ubiquitin

Topics

• Age of Onset
• Antigens, CD (metabolism)
• Biopsy (methods)
• Diagnosis
• Diagnosis, Differential
• Humans
• Intranuclear Inclusion Bodies (metabolism, pathology)
• Ki-67 Antigen (metabolism)
• Male
• Nerve Tissue Proteins (metabolism)
• Neurodegenerative Diseases (diagnosis, metabolism, physiopathology)
• Parkinsonian Disorders (physiopathology)
• Ubiquitin (metabolism)
• Young Adult