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Neuronal intranuclear inclusion disease: Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies
Vise andre og tillknytning
2005 (engelsk)Inngår i: Movement Disorders, ISSN 0885-3185, E-ISSN 1531-8257, Vol. 20, nr 10, s. 1345-1349Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

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.

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2005. Vol. 20, nr 10, s. 1345-1349
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URN: urn:nbn:se:liu:diva-31199DOI: 10.1002/mds.20559Lokal ID: 16946OAI: oai:DiVA.org:liu-31199DiVA, id: diva2:252022
Tilgjengelig fra: 2009-10-09 Laget: 2009-10-09 Sist oppdatert: 2017-12-13

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