Document Detail


Japanese family with parkinsonism, depression, weight loss, and central hypoventilation.
MedLine Citation:
PMID:  11940687     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Y Tsuboi; Z K Wszolek; T Kusuhara; K Doh-ura; T Yamada
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  58     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  2002 Apr 
Date Detail:
Created Date:  2002-04-09     Completed Date:  2002-05-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1025-30     Citation Subset:  AIM; IM    
Affiliation:
Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Brain / pathology
Depression / genetics*,  pathology,  physiopathology
Female
Humans
Hypoventilation / genetics*,  pathology,  physiopathology
Japan
Male
Middle Aged
Parkinsonian Disorders / genetics*,  pathology,  physiopathology
Pedigree
Syndrome
Weight Loss / genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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