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Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.

Brain & development - 1 Jun 2018

Yücel-Yılmaz Didem, Yücesan Emrah, Yalnızoğlu Dilek, Oğuz Kader Karlı, Sağıroğlu Mahmut Şamil, Özbek Uğur, Serdaroğlu Esra, Bilgiç Başar, Erdem Sevim, İşeri Sibel Aylin Uğur, Hanağası Haşmet, Gürvit Hakan, Özgül Rıza Köksal, Dursun Ali

Abstract excerpt

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...

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PMID: 29544888
DOI: 10.1016/j.braindev.2018.02.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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