title: Japanese family with parkinsonism, depression, weight loss, and central hypoventilation.
abstract: BACKGROUND
  The authors describe the clinical and pathologic characteristics of the Fukuoka 1 family, the first Japanese family recognized to have hereditary parkinsonism associated with depression, weight loss, and central alveolar hypoventilation.
  
  
  METHODS
  The pedigree contains 14 family members spanning four generations, with five affected individuals. All available medical records were collected for affected members, including autopsy results.
  
  
  RESULTS
  The inheritance pattern was autosomal dominant. The average age at onset of symptoms was 41 years. All patients had parkinsonism characterized by rigidity, bradykinesia, and resting and postural tremor. Bradykinesia and depression developed in the proband at age 43 years. He responded to levodopa in the initial stage only. A year later, he had weight loss and central hypoventilation leading to respiratory failure. Symptoms developed in his cousin at age 38 years. The proband's father developed a resting tremor and depression at age 43 years. The tremor was initially responsive to levodopa therapy, but the disease was relentlessly progressive, leading to severe bradykinesia, rigidity, weight loss, and respiratory distress. He died of respiratory failure at age 49 years. Autopsy showed marked neuronal loss and gliosis in the substantia nigra and locus ceruleus. Lewy bodies, neurofibrillary tangles, senile plaques, and other abnormal structures were not seen in the cortical and subcortical regions.
  
  
  CONCLUSIONS
  The Fukuoka 1 family shares many clinical and pathologic features with five previously reported kindreds from North America and Europe, suggesting that this syndrome has a worldwide distribution and can occur in different ethnic populations.
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Tsuboi
authors.forename: Z K
authors.initials: ZK
authors.lastname: Wszolek
authors.forename: T
authors.initials: T
authors.lastname: Kusuhara
authors.forename: K
authors.initials: K
authors.lastname: Doh-ura
authors.forename: T
authors.initials: T
authors.lastname: Yamada
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D003863:Depression / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D007040:Hypoventilation / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007564:Japan; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D013577:Syndrome; D015431:Weight Loss / Q000235:genetics*