Neuronal intranuclear inclusion disease: Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies
2005 (English)In: Movement Disorders, ISSN 0885-3185, Vol. 20, no 10, 1345-1349 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2005. Vol. 20, no 10, 1345-1349 p.
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:liu:diva-31199DOI: 10.1002/mds.20559Local ID: 16946OAI: oai:DiVA.org:liu-31199DiVA: diva2:252022