PET studies of parkinsonism associated with mutation in the α-synuclein gene

被引:46
作者
Samii, A
Markopoulou, K
Wszolek, ZK
Sossi, V
Dobko, T
Mak, E
Calne, DB
Stoessl, AJ
机构
[1] Vancouver Hosp & Hlth Sci Ctr, Ctr Neurodegenerat Disorders, Vancouver, BC V6T 2B5, Canada
[2] Univ Nebraska, Neurol Sect, Omaha, NE 68182 USA
[3] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA
关键词
PD; positron emission tomography; raclopride; fluorodopa; alpha-synuclein;
D O I
10.1212/WNL.53.9.2097
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective: To assess the pattern of dopaminergic abnormalities in a Greek-American kindred (family H) with autosomal dominantly inherited, levodopa-responsive parkinsonism caused by a mutation of the gene encoding alpha-synuclein. Background: Mutations of alpha-synuclein have been associated recently with dominantly inherited, levodopa-responsive parkinsonism. The pattern of dopamine deficiency and status of postsynaptic dopamine receptors in this condition have not been reported previously. The authors followed a large, six-generation family in whom the affected members carry the recently reported G209A mutation in the gene encoding alpha-synuclein. Methods: The authors studied four affected and two clinically unaffected gene-negative members of family H using [F-18]-6-fluoro-L-dopa (FD) and [C-11]-raclopride (RAC) PET to assess presynaptic dopaminergic function and dopamine D2 receptors. The results were compared with normal subjects and patients with sporadic, idiopathic PD (IP). Results: In affected individuals, FD uptake was reduced in both the caudate and the putamen, but the putamen was affected more severely than the caudate, as seen in IF. RAC binding was within the normal range, but the ratio of RAC binding in the putamen to that in the caudate was increased in affected members of family H. This pattern is similar to that seen in IF. Conclusions: PET of the nigrostriatal system in parkinsonism associated with a mutation in the alpha-synuclein gene indicates that it results in a pattern of dopamine deficiency, with preserved D2 binding, indistinguishable from IP.
引用
收藏
页码:2097 / 2102
页数:6
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