title: Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies.
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.
authors.affiliation: The Sara Koe Progressive Supranuclear Palsy Research Centre, Institute of Neurology, University College London, London, United Kingdom.
authors.forename: Dominic C
authors.initials: DC
authors.lastname: Paviour
authors.forename: Tamas
authors.initials: T
authors.lastname: Revesz
authors.forename: Janice L
authors.initials: JL
authors.lastname: Holton
authors.forename: Andrew
authors.initials: A
authors.lastname: Evans
authors.forename: Jan-Edvin
authors.initials: JE
authors.lastname: Olsson
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Lees
mesh_terms: D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004802:Eosinophilia / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006818:Hyalin / Q000378:metabolism; D045586:Intranuclear Inclusion Bodies / Q000378:metabolism*; D020961:Lewy Body Disease / Q000175:diagnosis*; D008168:Lung / Q000473:pathology; D019636:Neurodegenerative Diseases / Q000188:drug therapy* / Q000378:metabolism*; D009474:Neurons / Q000378:metabolism*; D012007:Rectum / Q000473:pathology