{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:38:20Z","timestamp":1760985500699},"reference-count":12,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2015,9,18]],"date-time":"2015-09-18T00:00:00Z","timestamp":1442534400000},"content-version":"unspecified","delay-in-days":11917,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. j. neurol. sci."],"published-print":{"date-parts":[[1983,2]]},"abstract":"<jats:title>SUMMARY:<\/jats:title><jats:p>In a recent paper (Barbeau and Pourcher, 1982) we demonstrated that so-called \u201cidiopathic\u201d Parkinson\u2019s disease is <jats:italic>not<\/jats:italic> a homogeneous 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, we carried out a prospective study of 50 kindreds with \u201cfamilial\u201d parkinsonism. 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). We uncovered two main patterns of genetic transmission within the parkinsonian patients: a parkinsonism related to dominant essential tremor (34 kindreds; 10% of all Parkinsonians) and a recessive \u201cakineto-rigid syndrome\u201d (10 kindreds; 3\u20134% of all Parkinsonians). A further 4 kindreds assumed a pseudo-dominant pattern but were probably recessive. Finally 2 kindreds were obviously other entities presenting as \u201cphenocopies\u201d of Parkinson\u2019s disease. Metabolically, hyperthyroidism appeared to be more frequent in essential tremor and \u201cessential-tremor related parkinsonism\u201d kindreds, while hypothyroidism and possibly hypoparathyroidism (post surgery) seemed more frequent in the recessive akineto-rigid syndrome kindreds.<\/jats:p>","DOI":"10.1017\/s0317167100044541","type":"journal-article","created":{"date-parts":[[2016,7,28]],"date-time":"2016-07-28T11:35:06Z","timestamp":1469705706000},"page":"37-42","source":"Crossref","is-referenced-by-count":51,"title":["A Prospective Study of 50 Cases of Familial Parkinson\u2019s Disease"],"prefix":"10.1017","volume":"10","author":[{"given":"Madeleine","family":"Roy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liette","family":"Boyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"Barbeau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2015,9,18]]},"reference":[{"key":"S0317167100044541_ref231","first-page":"35","volume-title":"Pitman Medical","author":"Yokochi","year":"1981"},{"key":"S0317167100044541_ref229","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197706302962606"},{"key":"S0317167100044541_ref228","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1975.00490440058009"},{"key":"S0317167100044541_ref227","unstructured":"Mj\u00f6nes H. (1949). Paralysis Agitans: A clinical and genetic study. Acta Psychiat. Scand. (Suppl. 54) p. 1\u2013130."},{"key":"S0317167100044541_ref226","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/96.3.495"},{"key":"S0317167100044541_ref224","first-page":"465","article-title":"Parkinson\u2019s disease. Genetic Analysis and Evidence of a Multifactorial Etiology","volume":"48","author":"Kondo","year":"1973","journal-title":"Mayo Clinic Proc"},{"key":"S0317167100044541_ref220","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1937.00180030041003"},{"key":"S0317167100044541_ref225","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1600-0404.1976.tb04328.x","article-title":"Epidemiology of Parkinson\u2019s disease in Finland","volume":"53","author":"Martilla","year":"1976","journal-title":"Acta Neurol. Scandinav"},{"key":"S0317167100044541_ref222","first-page":"79","author":"Barbeau","year":"1965"},{"key":"S0317167100044541_ref230","first-page":"65","article-title":"Familial manic-depressive illness and familial Parkinson\u2019s disease: \u2013 a case report","volume":"151","author":"Tune","year":"1982","journal-title":"Johns Hopkins Med"},{"key":"S0317167100044541_ref221","doi-asserted-by":"publisher","DOI":"10.1017\/S031716710004364X"},{"key":"S0317167100044541_ref223","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.7.881"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167100044541","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T19:40:26Z","timestamp":1558726826000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167100044541\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,2]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1983,2]]}},"alternative-id":["S0317167100044541"],"URL":"https:\/\/doi.org\/10.1017\/s0317167100044541","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,2]]}}}