Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)—a case series

IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY
Alexandra K. Brooks, Vicente Quiroz, Luca Schierbaum, Amy Tam, Julian E. Alecu, Darius Ebrahimi-Fakhari
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引用次数: 0

Abstract

Autosomal-dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of hereditary spastic paraplegia. However, we report two unrelated males with novel CPT1C variants (NM_001199753.2: patient 1: c.2057_2061del (p.Ile686SerfsTer8) and patient 2: c.2020-1G>C (p.?)) who presented with lower limb spasticity at 4 and 3 years old, respectively. Both patients also experienced significant cognitive impairment, seizures, or neurobehavioral symptoms. These cases illustrate a broader and more complex clinical spectrum of SPG73, extending beyond the traditionally recognized pure motor symptoms.

Abstract Image

扩大cpt1c相关遗传性痉挛性截瘫(SPG73)的分子和临床谱-病例系列
CPT1C基因常染色体显性变异与遗传性痉挛性截瘫73型(SPG73)有关,SPG73典型表现为缓慢进行性下肢无力和痉挛,因此被认为是遗传性痉挛性截瘫的一种纯粹形式。然而,我们报告了两名不相关的具有新型CPT1C变异的男性(NM_001199753.2:患者1:C .2057_2061del (p. ile686serfster8)和患者2:C .2020- 1g >C (p.?)),他们分别在4岁和3岁时表现为下肢痉挛。两名患者还经历了显著的认知障碍、癫痫发作或神经行为症状。这些病例说明了SPG73的更广泛和更复杂的临床谱,超出了传统上公认的纯运动症状。
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来源期刊
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology Medicine-Neurology (clinical)
CiteScore
9.10
自引率
1.90%
发文量
218
审稿时长
8 weeks
期刊介绍: Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.
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