Open AccessA novel CPT 1C variant causes pure hereditary spastic paraplegia with benign clinical course
Author(s) -
Hong Daojun,
Cong Lu,
Zhong Shanshan,
Liu Ling,
Xu Yan,
Zhang Jun
Publication year - 2019
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.717
Subject(s) - medicine , hereditary spastic paraplegia , paraplegia , spastic , physical therapy , genetics , phenotype , gene , spinal cord , cerebral palsy , psychiatry , biology
Abstract Hereditary spastic paraplegia 73 ( SPG 73) was currently identified in only one family with variant in the neuronal isoform of carnitine palmitoyl‐transferase 1C ( CPT 1C ) gene. We described a new family, in which affected individuals exhibited pure hereditary spastic paraplegia with benign clinical course. Exome sequencing revealed a novel nonsense variant in the CPT 1C gene. The level of CPT 1C mutant transcript significantly decreased compared to that of wild‐type transcript, and can be recovered after cycloheximide administration, which indicated that nonsense‐mediated mRNA decay was a mechanism that might be responsible for the phenotype. Our findings expanded the clinical and genetic spectrum of SPG 73.