Movement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.
Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
Parkinsonism Relat Disord. 2019 May;62:192-195. doi: 10.1016/j.parkreldis.2018.12.031. Epub 2019 Jan 2.
Homozygous sequestomosome-1 gene mutations have been recently linked to neurodegeneration with dystonia, ataxia and gaze palsy. Seven affected families were identified thus far.
To describe four new cases with additional phenotypical features.
Four affected patients from two unrelated families were identified. Two compound heterozygous variants of the gene (c.257_259delins35 and c.301+1G > T) were found in one family (cases 1 and 2), and homozygous c.823_824delAG variant was identified in cases 3 and 4. In addition to the previously described syndrome characterized by cerebellar ataxia, dystonia, choreoathetosis, cognitive impairment and gaze palsy, two subjects presented with iridoplegia. Furthermore, we report dysautonomic features such as orthostatic hypotension and sudomotor dysfunction, along with other non-motor symptoms.
We expand the phenotype of dystonia caused by Sequestomosome-1 gene by identifying dysautonomic features along with other non-motor symptoms.
最近发现纯合性 sequestomosome-1 基因突变与伴有肌阵挛的肌张力障碍、共济失调和眼球运动障碍的神经退行性疾病有关。迄今为止，已经确定了七个受影响的家族。
描述四个具有附加表型特征的新病例。
在两个无关联的家族中发现了四个受影响的患者。一个家族中发现了该基因的两个复合杂合变体（c.257_259delins35 和 c.301+1G > T）（病例 1 和 2），而病例 3 和 4 则存在纯合性 c.823_824delAG 变体。除了以前描述的以小脑共济失调、肌张力障碍、舞蹈手足徐动症、认知障碍和眼球运动障碍为特征的综合征外，两名患者还表现出虹膜麻痹。此外，我们报告了自主神经功能障碍特征，如直立性低血压和汗腺功能障碍，以及其他非运动症状。
我们通过识别自主神经功能障碍特征以及其他非运动症状，扩展了由 Sequestomosome-1 基因引起的肌张力障碍的表型。
