Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.

IF 2.6 4区医学 Q2 CLINICAL NEUROLOGY

Movement Disorders Clinical Practice Pub Date : 2025-04-22 DOI:10.1002/mdc3.70092

María Camila Cortés-Rojas, Ana María Zarante-Bahamón, Jorge Luis Ramón-Gómez

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引用次数: 0

Abstract

Background: Spastic ataxia type 5 (SPAX5) is a rare autosomal recessive neurodegenerative disorder caused by biallelic variants in the AFG3L2 gene. It is characterized by spasticity, cerebellar ataxia, dystonia, and myoclonic epilepsy.

Objectives: The objective was to describe the clinical features, with a focus on abnormal movements, and therapeutic outcomes in two Colombian patients with SPAX5.

Methods: Two non-consanguineous patients were evaluated for movement disorders, including spasticity, dystonia, and myoclonus, along with developmental regression and seizures. Treatment responses to antiepileptic drugs and levodopa were analyzed.

Results: Both patients presented with lower extremity spasticity, generalized dystonia, myoclonus, and seizures. Their responses to treatment were highly variable.

Conclusions: This study emphasizes the importance of abnormal movements in the clinical presentation of SPAX5 and highlights the variability in treatment outcomes.

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引起5型痉挛性共济失调（SPAX5）的AFG3L2双等位基因变异：哥伦比亚波哥大两例儿科病例报告

背景：痉挛性共济失调5型（SPAX5）是一种罕见的常染色体隐性神经退行性疾病，由AFG3L2基因双等位变异引起。它的特点是痉挛、小脑共济失调、肌张力障碍和肌阵挛性癫痫。目的：目的是描述两名哥伦比亚SPAX5患者的临床特征，重点是异常运动和治疗结果。方法：对两名非近亲患者进行运动障碍评估，包括痉挛、肌张力障碍和肌阵挛，以及发育倒退和癫痫发作。分析抗癫痫药物和左旋多巴的治疗效果。结果：两例患者均出现下肢痉挛、全身性肌张力障碍、肌阵挛和癫痫发作。他们对治疗的反应变化很大。结论：本研究强调了异常运动在SPAX5临床表现中的重要性，并强调了治疗结果的可变性。

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)