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

被引：20

作者：

Nicholl, DJ ^{[1
]}

Vaughan, JR

Khan, NL

Ho, SL

Aldous, DEW

Lincoln, S

Farrer, M

Gayton, JD

Davis, MB

Piccini, P

Daniel, SE

Lennox, GG

Brooks, DJ

Williams, AC

Wood, NW

机构：

[1] Queen Elizabeth Hosp, Dept Neurol, Birmingham B15 2TH, W Midlands, England

[2] Inst Neurol, London WC1N 3BG, England

[3] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, Sch Med, MRC Clin Sci Unit, London, England

[4] Parkinsons Dis Soc, Brain Res Ctr, London, England

[5] Addenbrookes Hosp, Dept Neurol, Cambridge, England

[6] Univ Hong Kong, Div Neurol, Hong Kong, Hong Kong, Peoples R China

[7] Mayo Clin Jacksonville, Dept Pharmacol, Jacksonville, FL 32224 USA

来源：

BRAIN | 2002年 / 125卷

关键词：

Parkinson's disease; familial; Lewy body; alpha-synuclein; parkin;

D O I：

10.1093/brain/awf013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 [F-18]6-fluorodopa-PET and were indistinguishable from patients with the sporadic form of Parkinson's disease. In one kindred, an affected memher 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.

引用

页码：44 / 57

页数：14

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