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Japanese family with parkinsonism, depression, weight loss, and central hypoventilation

From the Department of Neurology (Drs. Tsuboi and Wszolek), Mayo Clinic, Jacksonville, FL; Department of 5th Internal Medicine (Drs. Kusuhara and Yamada), Fukuoka University, Fukuoka; and Department of Neuropathology (Dr. Doh-ura), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Address correspondence to Dr. Zbigniew K. Wszolek, Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224.

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.

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