Stark Robert S, Walch Julia, Kägi Georg
Department of Psychiatry and Psychotherapy University of Tübingen Tübingen Germany.
Department of Neurology Kantonsspital St. Gallen St. Gallen Switzerland.
Mov Disord Clin Pract. 2019 Sep 16;6(8):700-703. doi: 10.1002/mdc3.12826. eCollection 2019 Nov.
Parkinson's disease (PD) is a common neurodegenerative disorder with both sporadic occurrence and Mendelian heredity, as it is true for autosomal recessive -related PD (PARK-). related PD is characterized by early onset, slow progression, frequent lower limb dystonia, and a robust response to levodopa. Clinicians are increasingly confronted with heterozygous PD patients mimicking dominant inheritance. Nevertheless, the exact clinical implications of heterozygosity are not fully understood.
We present an illustrative PARK- family with 2 affected sisters (compound heterozygous) and their father (heterozygous). One sister expresses the classical phenotype, whereas the other has isolated jerky tremor. The father has left-sided action tremor of the hand with some dystonic posturing without clear bradykinesia and normal DaTSCAN.
This case series illustrates the phenotypic variability in -related PD with 1 classical phenotype and 1 patient with isolated jerky tremor. Unilateral hand tremor of the heterozygous father could mislead genetic testing by mimicking dominant inheritance.
帕金森病（PD）是一种常见的神经退行性疾病，既有散发性病例，也有孟德尔遗传病例，常染色体隐性遗传相关的帕金森病（PARK-）亦是如此。常染色体隐性遗传相关的帕金森病的特点是发病早、进展缓慢、下肢肌张力障碍频繁，以及对左旋多巴反应强烈。临床医生越来越多地遇到表现为显性遗传的杂合型帕金森病患者。然而，杂合性的确切临床意义尚未完全明确。
我们展示了一个常染色体隐性遗传相关的帕金森病家族，有2名患病姐妹（复合杂合子）及其父亲（杂合子）。其中一个姐妹表现出典型的症状，而另一个只有孤立性的抽搐性震颤。父亲有左手的左侧动作性震颤，伴有一些肌张力障碍姿势，但无明显运动迟缓，DaTSCAN检查结果正常。
这个病例系列说明了常染色体隐性遗传相关的帕金森病的表型变异性，其中1例为典型症状，1例为孤立性抽搐性震颤。杂合子父亲的单侧手部震颤可能因类似显性遗传而误导基因检测。
