Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span |
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| Authors: | Didem Yücel-Yılmaz Emrah Yücesan Dilek Yalnızoğlu Kader Karlı Oğuz Mahmut Şamil Sağıroğlu Uğur Özbek Esra Serdaroğlu Başar Bilgiç Sevim Erdem Sibel Aylin Uğur İşeri Haşmet Hanağası Hakan Gürvit Rıza Köksal Özgül Ali Dursun |
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| Affiliation: | 1. Department of Pediatric Metabolism, Institute of Child Health, Hacettepe University, Turkey;2. Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Turkey;3. Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Turkey;4. Department of Radiology, Hacettepe University Faculty of Medicine, Turkey;5. Informatics and Information Security Research Center, National Research Institute of Electronics and Cryptology, TÜB?TAK, Turkey;6. Behavioral Neurology and Movement Disorders Unit, Department of Neurology, ?stanbul University Faculty of Medicine, Turkey;g. Department of Neurology, Hacettepe University Faculty of Medicine, Turkey;h. Department of Pediatric Metabolism, Hacettepe University Faculty of Medicine, Turkey |
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| Abstract: | 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 KIF1C mutations (c.463C> T; p.R1551 and c.2478delA; p.Ala828Argfs113). Neuroimaging findings showed cerebral and upper cervical spinal atrophy, bilateral symmetrical pyramidal tract involvement, and focal cerebral white matter lesions. Patients with KIF1C 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. |
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| Keywords: | Hereditary spastic paraplegia Ataxia Kinesin |
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