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Article

Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report.

BMC neurology - 7 Feb 2022

Guan Yalin, Lu Hui, Zuo Wenchao, Wang Xiaodan, Wang Shimin, Wang Xinping, Liu Feng, Jia Kun, Gao Rui, Wu Hao, Shi Zhihong, Ji Yong

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia 49 (HSP49) is an autosomal recessive genetic disease first discovered in 2012; and which the mutation primarily affects Bukharian Jewish patients. CASE PRESENTATION: The present case reports the first instance of HSP49 detected in China. The patient had normal mental development and good athletic ability before 10 years old and presented with instable temperature, mental...

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Identifiers

PMID: 35130874
DOI: 10.1186/s12883-022-02572-x
PMCID: PMC8819938

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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