TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum
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DOI：
10.1007/s10048-017-0508-6
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发表时间：
2017-04-01
期刊：
影响因子：
2.2
通讯作者：
Naz, Sadaf
中科院分区：
文献类型：
--
作者：
Tariq, Huma;Naz, Sadaf
遗传性痉挛性截瘫（HSP）是由上运动神经元轴突病变引起的下肢极度痉挛的运动障碍。我们描述了两个兄弟姐妹的隐性形式的运动障碍的影响。全外显子组测序显示TFG中的纯合错义突变c.64 C > T（p.Arg22Trp）是该疾病的原因。本研究患者的表型与先前报道的表型比较，揭示了疾病严重程度的差异以及新的临床发现。这些症状包括阵挛、言语不发达和睡眠障碍。我们的研究结果扩展了与HSP中TFG突变相关的表型谱。
Hereditary spastic paraplegias (HSPs) constitute movement disorders with extreme lower limb spasticity caused by axonopathies of the upper motor neurons. We describe two siblings affected with a recessive form of movement disorder. Whole-exome sequencing revealed a homozygous missense mutation c.64 C > T (p.Arg22Trp) in TFG as cause of the disorder. Comparison of the phenotype of the patients of this study, with that reported previously, revealed differences in the severity of the disorder as well as new clinical findings. These include presence of clonus, undeveloped speech, and sleep disturbances. Our findings extend the phenotypic spectrum associated with the TFG mutations in HSP.