A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.

Ashraf YahiaZhefan Stephen ChenAmmar E AhmedSara EmadRawaa AdilRayan AbubakerShaimaa Omer M A TahaMustafa A SalihLiena E O ElsayedHo Yin Edwin ChanGiovanni Stevanin

Published in: BMC neurology (2021)

We, herein, heighlighted the possibility of extending the phenotype associated with variants in CCDC88C to include early-onset pure hereditary spastic paraplegia.

Keyphrases

early onset
cerebral palsy
copy number
late onset
botulinum toxin
upper limb
genome wide
gene expression
dna methylation