Neuronal intranuclear inclusion disease: Report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies
✍ Scribed by Dominic C. Paviour; Tamas Revesz; Janice L. Holton; Andrew Evans; Jan-Edvin Olsson; Andrew J. Lees
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 133 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
Abstract
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa‐responsive dystonia (DRD) with Lewy body pathology. Pathological re‐examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia. © 2005 Movement Disorder Society