Open AccessA novel KIF 5A gene variant causes spastic paraplegia and cerebellar ataxia
Author(s) -
Qiu Yusen,
Zhong Shanshan,
Cong Lu,
Xin Ling,
Gao Xuguang,
Zhang Jun,
Hong Daojun
Publication year - 2018
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/acn3.650
Subject(s) - hereditary spastic paraplegia , ataxia , cerebellar ataxia , medicine , spinocerebellar ataxia , spasticity , spastic , exome sequencing , gene , mutation , paraplegia , phenotype , neuroscience , genetics , biology , spinal cord , physical medicine and rehabilitation , cerebral palsy , psychiatry
Mutations in the kinesin family member 5A ( KIF 5A ) gene are mainly associated with autosomal dominant spastic paraplegia 10 ( SPG 10). The additional complicated symptoms of SPG 10 commonly include a wide spectrum. However, cerebellar ataxia is only noticed in a very few patients. Herein, we described a large autosomal dominant family, in which the affected individuals presented with progressive spastic paraparesis and marked cerebellar ataxia. Exome sequencing revealed that a novel variant in the KIF 5A gene might be responsible for the phenotype. The obvious cerebellar ataxia indicated that the KIF 5A gene should be included in the expanding gene list for spasticity‐ataxia spectrum.