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Bioprocess 2025
一例以共济失调、震颤为突出表现的遗传性痉挛性截瘫54型
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Abstract:
报道一例以共济失调、全身震颤、眼肌麻痹、痉挛性截瘫为临床表现的成人起病的常染色体隐性遗传的复杂型遗传性痉挛性截瘫(hereditary spastic paraplegias, HSP)。患者通过全外显子基因测序，找到DDHD2基因[c.335G>A, p.R112Q]的纯合突变，提示该突变可能与该患者的临床表现相关。本例报告为复杂型HSP的遗传基础提供了新的见解，并强调了基因检测在此类罕见疾病诊断中的重要性。
We report a case of adult-onset autosomal recessive complex hereditary spastic paraplegia (HSP), characterized by a combination of ataxia, generalized tremor, ophthalmoplegia, and spastic paraplegia. Genetic analysis through whole-exome sequencing identified a homozygous mutation in the DDHD2 gene (c.335G>A, p.R112Q), which is likely responsible for the observed clinical manifestations. This case report provides new insights into the genetic basis of complex HSP and highlights the importance of genetic testing in the diagnosis of such rare diseases.
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