Clinical features and neuroimaging of PARK7-linked parkinsonism

被引:57
作者
Dekker, M
Bonifati, V
van Swieten, J
Leenders, N
Galjaard, RJ
Snijders, P
Horstink, M
Heutink, P
Oostra, B
van Duijn, C
机构
[1] Erasmus MC, Genet Epidemiol Unit, Dept Epidemiol, NL-3000 DR Rotterdam, Netherlands
[2] Erasmus MC, Dept Biostat & Clin Genet, NL-3000 DR Rotterdam, Netherlands
[3] Erasmus MC, Dept Neurol, Rotterdam, Netherlands
[4] Univ Roma La Sapienza, Dept Neurol Sci, Rome, Italy
[5] Univ Groningen Hosp, Dept Neurol, Groningen, Netherlands
[6] Univ Nijmegen, Med Ctr, Dept Neurol, Nijmegen, Netherlands
关键词
autosomal-recessive parkinsonism; PARK7; genetics; phenotype; neuroimaging; EARLY-ONSET PARKINSONISM; NIGROSTRIATAL DOPAMINERGIC SYSTEM; FAMILIAL PARKINSONISM; HOMOZYGOUS DELETION; DISEASE; GENE; MUTATIONS; LOCUS; LOCALIZATION; MAPS;
D O I
10.1002/mds.10422
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We recently reported linkage to chromosome 1p36 (the PARK7-locus) in a family with early-onset parkinsonism. Linkage to this locus has since been confirmed in an independent data set. We describe clinical and neuroimaging features of the 4 patients in the original PARK7-linked kindred. Age at onset of parkinsonism varied from 27 to 40 years. Clinical progression was slow, and response to dopaminergic therapy good. The clinical spectrum ranged from mild hypokinesia and rigidity, to severe parkinsonism with levodopa-induced dyskinesias and motor fluctuation. Three of four patients with PARK7-linked parkinsonisin exhibited psychiatric disturbances. Structural neuroimaging was unremarkable, but functional imaging of the brain, carried out in 3 patients, showed significant evidence for a presynaptic dopamine deficit, and assessment of cerebral glucose metabolism, as carried out in I patient, showed possible cerebellar involvement. (C) 2003 Movement Disorder Society.
引用
收藏
页码:751 / 757
页数:7
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