title: Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism.
abstract: BACKGROUND
  Diagnostic considerations for juvenile onset Parkinsonism (onset at < 21 years of age) include juvenile Huntington disease, Wilson disease, dentatorubral-pallidoluysian atrophy (DRPLA), storage diseases, and mitochondrial cytopathies. Neuronal Intranuclear Inclusion Disease (NIID) must also be considered.
  
  
  METHODS
  We present a case of juvenile onset NIID with a predominantly Parkinsonian presentation, followed later by corticospinal, cerebellar, and lower motor neuron symptoms.
  
  
  CONCLUSIONS
  Diagnosis of NIID can be made antemortem through rectal biopsy, however it was missed in this case. Rectal biopsy should be performed in all suspected cases, reviewed by an experienced neuropathologist and repeated if the suspicion for NIID is high. Pathologically, SUMO-1 immunohistochemistry appears to reliably label the neuronal inclusions and abnormal SUMOylation may play a part in the pathogenesis.
authors.affiliation: Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta.
authors.forename: Katie M
authors.initials: KM
authors.lastname: Wiltshire
authors.forename: Christopher
authors.initials: C
authors.lastname: Dunham
authors.forename: Stuart
authors.initials: S
authors.lastname: Reid
authors.forename: Roland N
authors.initials: RN
authors.lastname: Auer
authors.forename: Oksana
authors.initials: O
authors.lastname: Suchowersky
mesh_terms: D017668:Age of Onset; D015703:Antigens, CD / Q000378:metabolism; D001706:Biopsy / Q000379:methods; D003933:Diagnosis; D003937:Diagnosis, Differential; D006801:Humans; D045586:Intranuclear Inclusion Bodies / Q000378:metabolism / Q000473:pathology*; D019394:Ki-67 Antigen / Q000378:metabolism; D008297:Male; D009419:Nerve Tissue Proteins / Q000378:metabolism; D019636:Neurodegenerative Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D020734:Parkinsonian Disorders / Q000503:physiopathology*; D025801:Ubiquitin / Q000378:metabolism; D055815:Young Adult
chemical_list: D015703:Antigens, CD; D019394:Ki-67 Antigen; D009419:Nerve Tissue Proteins; D025801:Ubiquitin