A PROSPECTIVE-STUDY OF 50 CASES OF FAMILIAL PARKINSONS-DISEASE
A PROSPECTIVE-STUDY OF 50 CASES OF FAMILIAL PARKINSONS-DISEASE
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DOI：
10.1017/s0317167100044541
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发表时间：
1983-01-01
影响因子：
3
通讯作者：
BARBEAU, A
中科院分区：
文献类型：
--
作者：
ROY, M;BOYER, L;BARBEAU, A
Barbeau and Pourcher (1982) demonstrated that so-called idiopathic Parkinson''s disease is not a homogenous entity, and defined the existence of a sub-group of patients with genetic parkinsonism. To investigate this last possibility, and to uncover possible metabolic clues as to the etiology of such cases, a prospective study of 50 kindreds with familial parkinosinsm was carried out. Two control groups were similarly studied: 50 kindreds with essential tremor (neurological control group) and 50 kindreds originating from spouses of the previous patients (non-neurological control group). Two main patterns of genetic transmission were uncovered with the parkinsonian patients: a parkinsonism related to dominant essential tremor (34 kindreds; 10% of all Parkinsonians) and a recessive akineto-rigid syndrome (10 kindreds; 3-4% of all Parkinsonians). A further 4 kindreds assumed a pseudodominant pattern but were probably recessive. Two kindreds were obviously other entities presenting as phenocopies of Parkinson''s disease. Metabolically, hyerthyroidism appeared to be more frequent in essential tremor and essential-tremor related parkinsonism kindreds, while hypothyroidism and possibly hypoparathyroidism (post surgery) seemed more frequent in the recessive akineto-rigid syndrome kindreds.
