Tariq Huma, Naz Sadaf
School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan.
Neurogenetics. 2017 Apr;18(2):105-109. doi: 10.1007/s10048-017-0508-6. Epub 2017 Jan 25.
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.
遗传性痉挛性截瘫（HSPs）是由上运动神经元轴索性神经病引起的、具有严重下肢痉挛的运动障碍。我们描述了两名患有隐性运动障碍形式的兄弟姐妹。全外显子组测序显示，TFG基因中存在纯合错义突变c.64 C>T（p.Arg22Trp），这是导致该疾病的原因。将本研究患者的表型与先前报道的表型进行比较，发现疾病严重程度存在差异以及有新的临床发现。这些发现包括阵挛、语言发育不全和睡眠障碍。我们的研究结果扩展了与HSP中TFG突变相关的表型谱。
