Literature DB >> 11834592

Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study.

D J Nicholl1, J R Vaughan, N L Khan, S L Ho, D E W Aldous, S Lincoln, M Farrer, J D Gayton, M B Davis, P Piccini, S E Daniel, G G Lennox, D J Brooks, A C Williams, N W Wood.   

Abstract

We present the findings of a study of two large unrelated kindreds with autosomal dominant Parkinson's disease. The affected members were assessed clinically and with [(18)F]6-fluorodopa-PET and were indistinguishable from patients with the sporadic form of Parkinson's disease. In one kindred, an affected member was examined subsequently at autopsy and Lewy bodies were present in a distribution typical of sporadic Parkinson's disease. These kindreds are distinct from other Parkinsonian kindreds with identified genetic loci (PARK1-4) and provide further evidence for genetic heterogeneity in familial Parkinson's disease.

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Year:  2002        PMID: 11834592     DOI: 10.1093/brain/awf013

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


  6 in total

Review 1.  The genetic basis of Parkinson's disease.

Authors:  T Foltynie; S Sawcer; C Brayne; R A Barker
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-10       Impact factor: 10.154

2.  Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.

Authors:  Anamika Giri; Kin Y Mok; Iris Jansen; Manu Sharma; Christelle Tesson; Graziella Mangone; Suzanne Lesage; José M Bras; Joshua M Shulman; Una-Marie Sheerin; Mónica Díez-Fairen; Pau Pastor; María José Martí; Mario Ezquerra; Eduardo Tolosa; Leonor Correia-Guedes; Joaquim Ferreira; Najaf Amin; Cornelia M van Duijn; Jeroen van Rooij; André G Uitterlinden; Robert Kraaij; Michael Nalls; Javier Simón-Sánchez
Journal:  Neurobiol Aging       Date:  2016-10-11       Impact factor: 4.673

3.  Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.

Authors:  Y H Xu; Y Sun; H Ran; B Quinn; D Witte; G A Grabowski
Journal:  Mol Genet Metab       Date:  2010-12-31       Impact factor: 4.797

Review 4.  The genetics of Parkinson disease.

Authors:  Lynn M Bekris; Ignacio F Mata; Cyrus P Zabetian
Journal:  J Geriatr Psychiatry Neurol       Date:  2010-10-11       Impact factor: 2.680

Review 5.  Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Authors:  Liesel Goveas; Eugénie Mutez; Marie-Christine Chartier-Harlin; Jean-Marc Taymans
Journal:  Cells       Date:  2021-04-22       Impact factor: 6.600

Review 6.  Imaging Familial and Sporadic Neurodegenerative Disorders Associated with Parkinsonism.

Authors:  David J Brooks
Journal:  Neurotherapeutics       Date:  2021-01-11       Impact factor: 7.620

  6 in total

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