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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >A novel PLP1 mutation further expands the clinical heterogeneity at the locus
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A novel PLP1 mutation further expands the clinical heterogeneity at the locus

机译：新的PLP1突变进一步扩大了临床上的异质性

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摘要

Objectives: To characterize at clinical and molecular levels a family presenting with X-linked recessive Hereditary Spastic Paraplegia (HSP). Background: HSPs are a large group of genetically heterogeneous neurodegenerative disorders characterized by progressive upper motor neuron signs. Mutations in the proteolipid protein (PLP1) gene have been identified in families linked to the SPG2 locus on chromosome Xq22. However, Pelizaeus-Merzbacher disease (PMD) is also an X-linked recessive neurological disorder caused by PLP1 mutations. Methods: The SPG2 locus was investigated by linkage analysis in the family. The PLP1 gene was screened by sequencing. We present findings in a large French-Canadian family with an X-linked recessive HSP. The proband presented early with developmental delay and developed progressive spastic paraplegia. He has been wheelchair-bound since the age of three years. At the latest follow-up, he was 20 years-old and had severe spasticity predominantly affecting the lower extremities, moderate cerebellar dysfunction, and optic atrophy. Results: Linkage to SPG2 was established and a G to A mutation (M1R) in the initiation codon of the PLP1 gene was identified, likely resulting in the complete absence of proteolipid protein. Conclusions: We report a new PLP1 gene mutation in a patient with a clinical phenotype consistent with a PLP1 null syndrome.
机译：目的：在临床和分子水平上表征出现X连锁隐性遗传性痉挛性截瘫（HSP）的家庭。背景：HSPs是一大类遗传性异质性神经退行性疾病，其特征是进行性上运动神经元体征。已经在与Xq22染色体上SPG2基因座相关的家族中发现了蛋白脂蛋白（PLP1）基因的突变。但是，Pelizaeus-Merzbacher病（PMD）也是由PLP1突变引起的X连锁隐性神经系统疾病。方法：对SPG2基因座进行连锁分析。通过测序筛选PLP1基因。我们介绍了一个X连锁隐性HSP的大型法裔加拿大家庭的发现。先证者出现发育迟缓并发展为进行性痉挛性截瘫。他从三岁起就坐轮椅。在最新的随访中，他20岁，患有严重的痉挛，主要累及下肢，中度小脑功能障碍和视神经萎缩。结果：建立了与SPG2的链接，并在PLP1基因的起始密码子中鉴定出G到A突变（M1R），这可能导致完全没有蛋白脂蛋白。结论：我们报告了临床表型与PLP1无效综合征相符的患者中的新PLP1基因突变。

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