title: Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease.
abstract: BACKGROUND
  Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. Because of the variety of clinical manifestations, antemortem diagnosis of NIID is difficult.
  
  
  METHODS
  Seven skin biopsy samples from patients with familial NIID were evaluated histochemically, and the results were compared with those of skin samples from normal control subjects and from patients with other neurologic diseases. We also examined skin biopsy samples from patients with NIID by electron microscopy.
  
  
  RESULTS
  In NIID skin biopsy samples, intranuclear inclusions were observed in adipocytes, fibroblasts, and sweat gland cells. These inclusions were stained with both anti-ubiquitin and anti-SUMO1 antibodies. Electron microscopy revealed that the features of the intranuclear inclusions in adipocytes, fibroblasts, and sweat gland cells were identical to those of neuronal cells. Approximately 10% of adipocytes showed intranuclear inclusions. No intranuclear inclusions were identified in the skin samples from normal control subjects and patients with other neurologic diseases.
  
  
  CONCLUSIONS
  Skin biopsy is an effective and less invasive antemortem diagnostic tool for NIID.
authors.affiliation: Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Aichi 466-8550, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Sone
authors.forename: F
authors.initials: F
authors.lastname: Tanaka
authors.forename: H
authors.initials: H
authors.lastname: Koike
authors.forename: A
authors.initials: A
authors.lastname: Inukai
authors.forename: M
authors.initials: M
authors.lastname: Katsuno
authors.forename: M
authors.initials: M
authors.lastname: Yoshida
authors.forename: H
authors.initials: H
authors.lastname: Watanabe
authors.forename: G
authors.initials: G
authors.lastname: Sobue
mesh_terms: D001706:Biopsy / Q000379:methods; D003933:Diagnosis; D006801:Humans; D007211:Indoles; D045586:Intranuclear Inclusion Bodies / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D046529:Microscopy, Electron, Transmission / Q000379:methods; D019636:Neurodegenerative Diseases / Q000175:diagnosis; D009457:Neuroglia / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009474:Neurons / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D025842:SUMO-1 Protein / Q000378:metabolism; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure*; D025801:Ubiquitin / Q000378:metabolism
chemical_list: D007211:Indoles; D025842:SUMO-1 Protein; D025801:Ubiquitin; C007293:DAPI