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KMID : 1197720240170010094
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대한파킨슨병 및 이상운동질환 학회지
2024 Volume.17 No. 1 p.94 ~ p.98
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A new phenotype of TUBB4A mutation in a family with adult-onset progressive spastic paraplegia and isolated hypomyelination leukodystrophy: A case report and literature review
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Pei-Chen Hsieh
Pei Shan Yu
Wen-Lang Fan
Chun-Chieh Wang
Chih-Ying Chao
Yih-Ru Wu
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Abstract
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Tubulin beta 4A class IVa (TUBB4A) spectrum disorders include autosomal dominant dystonia type 4 or hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). However, in rare cases, only mild hypomyelination in the cortex with no basal ganglia atrophy may be observed. We report a case of a family with TUBB4A mutation and complicated hereditary spasticity paraplegia (HSP). We performed quadro whole-exome sequencing (WES) on the family to identify the causative gene of progressive spastic paraparesis with isolated hypomyelination leukodystrophy. We identified a novel TUBB4A p.F341L mutation, which was present in all three affected patients but absent in the unaffected father. The affected patients presented with adult-onset TUBB4A disorder, predominant spastic paraparesis with/without ataxia, and brain hypomyelination with no cognitive impairment or extrapyramidal symptoms. In the literature, HSP is considered a TUBB4A spectrum disorder.
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KEYWORD
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TUBB4A, Hereditary spasticity paraplegia (HSP), Whole-exome sequencing (WES)
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