Paviour, DC and Revesz, T and Holton, JL and Evans, A and Lees, AJ (2005) Neuronal intranuclear inclusion disease: Report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. MOVEMENT DISORD , 20 (10) 1345 - 1349. 10.1002/mds.20559.
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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. (c) 2005 Movement Disorder Society.
| Type: | Article |
|---|---|
| Title: | Neuronal intranuclear inclusion disease: Report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies |
| DOI: | 10.1002/mds.20559 |
| Keywords: | neuronal intranuclear inclusion disease, differential diagnosis, rectal biopsy, juvenile parkinsonism, ONSET PARKINSONS-DISEASE, MULTIPLE SYSTEM ATROPHY, RECTAL BIOPSY, JUVENILE PARKINSONISM, HUNTINGTONS-DISEASE, HYALINE INCLUSIONS, BODY DISEASE, ATAXIA, DISORDER, FEATURES |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > RLW Institute of Neurological Sciences |
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