Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia

Mov Disord. 2023 Aug;38(8):1561-1562. doi: 10.1002/mds.29459. Epub 2023 Jun 15.

Authors

Donatella Caputo¹, Valentina Cetica¹, Silvia Paoli², Anna Rosati¹, Simone Lazzeri³

Affiliations

¹ Neuroscience Department, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy.
² Department of Physical Medicine and Rehabilitation, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy.
³ Pediatric Orthopedics Unit, APSS Santa Chiara Hospital, Trento, Italy.

PMID: 37317935
DOI: 10.1002/mds.29459

No abstract available

Keywords: CCDC88C gene; children; spastic paraplegia; whole-exome sequencing.

Publication types

Letter

MeSH terms

Humans
Intracellular Signaling Peptides and Proteins / genetics
Microfilament Proteins / genetics
Mutation / genetics
Paraplegia / genetics
Pedigree
Spastic Paraplegia, Hereditary* / genetics

Substances

CCDC88C protein, human
Microfilament Proteins
Intracellular Signaling Peptides and Proteins