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Article

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

BMC neurology - 18 Feb 2021

Yahia Ashraf, Chen Zhefan Stephen, Ahmed Ammar E, Emad Sara, Adil Rawaa, Abubaker Rayan, Taha Shaimaa Omer M A, Salih Mustafa A, Elsayed Liena, Chan Ho Yin Edwin, Stevanin Giovanni

Abstract excerpt

BACKGROUND: CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosomal recessive congenital hydrocephalus (OMIM #236600). Studies recently linked heterozygous mutations in CCDC88C to the development of the late-onset spinocerebellar ataxia type 40 (OMIM...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33602173
DOI: 10.1186/s12883-021-02113-y
PMCID: PMC7890981

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