Sorrentino Ugo, Romito Luigi M, Garavaglia Barbara, Fichera Mario, Colangelo Isabel, Prokisch Holger, Winkelmann Juliane, Necpal Jan, Jech Robert, Zech Michael
Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.
Tremor Other Hyperkinet Mov (N Y). 2024 Apr 10;14:16. doi: 10.5334/tohm.858. eCollection 2024.
Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in . A growing, yet still limited number of reports suggested that hyperkinetic movements should be considered a defining component of the disease.
We describe two newly identified families harboring the recurrent pathogenic p.Pro170Leu variant. Both index patients and the mother of the first proband developed movement disorders, manifesting as myoclonic dystonia and action-induced dystonia without co-occurring ataxia in one case, and pancerebellar syndrome complicated by action-induced dystonia in the other. We reviewed the literature on variants linked to hyperkinetic disorders, comparing our cases to described phenotypes.
Adding to prior preliminary observations, our series highlights the relevance of hyperkinetic movements as clinically meaningful features of SCA21. mutation should be included in the differential diagnosis of myoclonic dystonia and ataxia-dystonia syndromes.
脊髓小脑共济失调21型（SCA21）是一种由……中的杂合变异引起的罕见神经系统疾病。越来越多但数量仍然有限的报告表明，运动过多应被视为该疾病的一个决定性组成部分。
我们描述了两个新发现的携带复发性致病性p.Pro170Leu变异的家系。两名索引患者以及第一个先证者的母亲均出现了运动障碍，其中一例表现为肌阵挛性肌张力障碍和动作诱发性肌张力障碍，未伴有共济失调，另一例表现为全小脑综合征并伴有动作诱发性肌张力障碍。我们回顾了与运动过多性疾病相关的……变异的文献，并将我们的病例与已描述的表型进行了比较。
除了先前的初步观察结果外，我们的系列研究强调了运动过多作为SCA21临床有意义特征的相关性。……突变应纳入肌阵挛性肌张力障碍和共济失调 - 肌张力障碍综合征的鉴别诊断中。
