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Case Report 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
Pei‐Chen Hsieh1, Pei Shan Yu1, Wen-Lang Fan2,3, Chun‐Chieh Wang1, Chih-Ying Chao1, Yih‐Ru Wu1,4corresp_icon

DOI: [Accepted]
Published online: October 23, 2023
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1Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan, Taiwan
2Department of Medical Research, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung
3Genomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan
4Department of Neurology, College of Medicine, Chang Gung University, Taoyuan, Taiwan
Corresponding author:  Yih‐Ru Wu,
Email: yihruwu@
Received: 26 July 2023   • Revised: 25 September 2023   • Accepted: 23 October 2023

Tubulin Beta 4A Class IVa (TUBB4A) spectrum disorders have been reported as 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) for 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 was 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 and extrapyramidal symptoms. In the literature, HSP is considered a TUBB4A spectrum disorder.

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