期刊
BRAIN & DEVELOPMENT
卷 40, 期 6, 页码 458-464出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2018.02.013
关键词
KIFIC; Hereditary spastic paraplegia; Ataxia; Kinesin
资金
- Scientific and Technology Research Council of Turkey (TUBITAK) [111S217, UEKAE]
- BILGEM [K030-T439]
- Scientific Research Projects Coordination Unit of Istanbul University, ONAP [11021]
- Republic of Turkey Ministry of Development Infrastructure Grant, TRMOD [108S420]
- TUBITAK [113S331]
- Istanbul Development Agency [TR10/15/YNK/0093]
Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has recently been identified as one of the genetic causes of HSP and associated with pure or complicated HSP. We present three patients with complicated HSP from two unrelated families, who had early onset progressive cerebellar signs and developed pyramidal tract signs during follow-up. Whole exome sequencing in these patients followed by segregation analysis identified novel truncating KIFIC mutations (c.463C> T; p.R155* and c.2478delA; p.A1a828Argfs*13). Neuroimaging findings showed cerebral and upper cervical spinal atrophy, bilateral symmetrical pyramidal tract involvement, and focal cerebral white matter lesions. Patients with KIFIC mutations may present with cerebellar signs and pyramidal findings may emerge later, therefore complicated HSP should be considered in the differential diagnosis of unidentified cases with cerebellar dysfunction. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据