Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Muelas Nuria, Sivera Rafael, Sopena-Novales Pablo, Martínez-Sanchis Begoña, Sastre-Bataller Isabel, Campins-Romeu Marina, Martínez-Torres Irene, García-Verdugo Jose Manuel, Millán Jose M, Jaijo Teresa, Aller Elena, Bataller Luis
Neurology Department Hospital Universitari I Politècnic La Fe Valencia Spain.
Neuromuscular and Ataxias Research Group Instituto de Investigación Sanitaria La Fe Valencia Spain.
Mov Disord Clin Pract. 2023 May 5;10(6):992-997. doi: 10.1002/mdc3.13740. eCollection 2023 Jun.
Autosomal dominant spinocerebellar ataxia 36 (SCA36) is caused by hexanucleotide repeat expansion in the gene.
To assess frequency, clinical and genetic features of SCA36 in Eastern Spain.
expansion was tested in a cohort of undiagnosed cerebellar ataxia families (n = 84). Clinical characterization and haplotype studies were performed.
SCA36 was identified in 37 individuals from 16 unrelated families. It represented 5.4% of hereditary ataxia patients. The majority were originally from the same region and displayed a shared haplotype. Mean age at onset was 52.5 years. Non-ataxic features included: hypoacusis (67.9%), pyramidal signs (46.4%), lingual fasciculations/atrophy (25%), dystonia (17.8%), and parkinsonism with evidence of dopaminergic denervation (10.7%).
SCA36 is a frequent cause of hereditary ataxia in Eastern Spain, and is associated with a strong founder effect. SCA36 analysis should be considered prior to other studies, especially in AD presentations. Parkinsonism reported here broadens SCA36 clinical spectrum.
常染色体显性遗传性脊髓小脑共济失调36型（SCA36）由该基因中的六核苷酸重复扩增引起。
评估西班牙东部SCA36的发病率、临床和遗传特征。
对一组未确诊的小脑共济失调家族（n = 84）进行重复扩增检测。进行了临床特征分析和单倍型研究。
在16个无亲缘关系的家族中的37名个体中鉴定出SCA36。它占遗传性共济失调患者的5.4%。大多数人最初来自同一地区，并表现出共享单倍型。平均发病年龄为52.5岁。非共济失调特征包括：听力减退（67.9%）、锥体束征（46.4%）、舌肌束颤/萎缩（25%）、肌张力障碍（17.8%）和有多巴胺能去神经证据的帕金森综合征（10.7%）。
SCA36是西班牙东部遗传性共济失调的常见病因，且与强烈的奠基者效应有关。在进行其他研究之前应考虑SCA36分析，尤其是在常染色体显性遗传表现中。此处报道的帕金森综合征拓宽了SCA36的临床谱。
