van de Warrenburg B P, Lammens M, Lücking C B, Denèfle P, Wesseling P, Booij J, Praamstra P, Quinn N, Brice A, Horstink M W
Department of Neurology, University Medical Center, Nijmegen, The Netherlands.
Neurology. 2001 Feb 27;56(4):555-7. doi: 10.1212/wnl.56.4.555.
A Dutch family with autosomal recessive early-onset parkinsonism showed a heterozygous missense mutation in combination with a heterozygous exon deletion in the parkin gene. Although the main clinical syndrome consisted of parkinsonism, the proband clinically had additional mild gait ataxia and pathologically showed neuronal loss in parts of the spinocerebellar system, in addition to selective loss of dopaminergic neurons in the substantia nigra pars compacta. Lewy bodies and neurofibrillary tangles were absent, but tau pathology was found.
一个患有常染色体隐性早发性帕金森病的荷兰家族，其帕金基因存在杂合错义突变并伴有杂合外显子缺失。尽管主要临床综合征为帕金森病，但先证者临床上还有轻度步态共济失调，病理检查除黑质致密部多巴胺能神经元选择性缺失外，还显示脊髓小脑系统部分区域有神经元丢失。未发现路易小体和神经原纤维缠结，但发现了tau蛋白病变。
