VPS13A Disease (Chorea-Acanthocytosis) in Puerto Rico; New Genetic and Clinical Observations.

IF 3.4 4区医学 Q2 CLINICAL NEUROLOGY

Movement Disorders Clinical Practice Pub Date : 2026-10-16 DOI:10.1002/mdc3.70866

Cristal Alicea-Malave, Antonio Velayos-Baeza, Sylvette Ayala-Peña, Laura Surillo-Dahdah, Carmen Serrano, Matthew J Barrett, Sara E Berman, Alessandro Di Rocco, Kevin M Flanigan, Zachary B Jordan, Aaron Lasker, Mitesh Lotia, Alayne P Meyer, Priyanka Moondra, David K Simon, Matthew Swan, Carlos A Toro Chacon, Alexey Kozlenkov, Olivia Albers, Shahrukh Khalique, Klaudia Flora Laborc, Kurt Farrell, Eduardo Perez-Luciano, Ruth H Walker

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引用次数: 0

Abstract

Background: VPS13A disease is a very rare neurodegenerative disorder caused by mutations in the VPS13A gene. Its prevalence appears to be relatively high in Puerto Ricans, although limited genetic information has been available.

Objectives: To describe the genetics of VPS13A disease (chorea-acanthocytosis) in Puerto Rico.

Methods: Data were obtained from Puerto Rican patients with genetically confirmed VPS13A disease.

Results: Eighteen cases were identified, all carrying at least one of four mutations, c.1400_1401del, c.3556_3557dup, c.3889C>T, and c.2825-253_2905-374del (exon_27-deletion); six additional single variants were detected. Seizures were the presenting symptom in 53% of patients.

Conclusion: The presence of these probable founder mutations could explain the apparently increased prevalence in Puerto Rico; half of the described variants are newly described mutations and half have been previously reported. Enhanced clinical awareness of the spectrum of presenting symptoms and diagnostic clues, and improved access to genetic testing are essential for timely diagnosis in this population.

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波多黎各的VPS13A病（舞蹈病-棘细胞增多症）；新的遗传学和临床观察。

背景：VPS13A病是一种非常罕见的由VPS13A基因突变引起的神经退行性疾病。它在波多黎各人中的流行率似乎相对较高，尽管可以获得的遗传信息有限。目的：描述波多黎各VPS13A病（舞蹈病-棘细胞增多症）的遗传学。方法：数据来自波多黎各遗传证实的VPS13A疾病患者。结果：18例患者均携带c.1400_1401del、c.3556_3557dup、c.3889C>T和c.2825-253_2905-374del (exon_27-deletion) 4种突变中的至少一种；检测到另外6个单一变异。癫痫是53%患者的主要症状。结论：这些可能的始祖突变的存在可以解释波多黎各明显增加的患病率；所描述的变异中有一半是新描述的突变，一半是以前报道过的。提高临床对各种表现症状和诊断线索的认识，并改善获得基因检测的机会，对这一人群的及时诊断至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)