FAMILIAL PARKINSONISM, DEMENTIA, AND LEWY-BODY-DISEASE - STUDY OF FAMILY-G

Genetic influences are thought by many to play an important role in th e cause of Parkinson's disease. We studied two closely intermarried fa milies (Family G) whose ancestors immigrated to the United States from Russia. We investigated this family clinically, genealogically, and p athologically. Our pedigree contained 102 members spanning six generat ions, with 10 affected individuals and 1 affected spouse. Detailed tel ephone interviews were conducted with affected individuals, with their spouses, and with their at-risk sibling. Medical records of-deceased and living affected patients were collected. Physical examinations wer e performed on 7 at-risk and 5 affected persons. Typical levodopa-resp onsive parkinsonism with bradykinesia, rigidity, resting tremor, and i mpaired postural reflexes was seen in 4 members, dementia was present in 3, and 3 had both dementia and parkinsonism. An autopsy completed o n 1 individual, our index case, demonstrated Lewy bodies in the brains tem and neocortex, and ubiquitin-positive neuritic degeneration in the CA2-3 region of the hippocampus, consistent with the limbic (transiti onal) form of Lewy body disease, This family is distinct both clinical ly and pathologically from several previously reported parkinsonian ki ndreds.