VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Kishin KohHiroyuki IshiuraHaruo ShimazakiMichiko TsutsumiuchiYuta IchinoseHaitian NanShun HamadaToshihisa OhtsukaShoji TsujiYoshihisa Takiyama

Published in: Molecular genetics & genomic medicine (2019)

In the present study, we found four patients in three Japanese families with novel VPS13D mutations, which may broaden the clinical and genetic findings for VPS13D-related disorders.

Keyphrases

ejection fraction
newly diagnosed
prognostic factors
gene expression
patient reported outcomes
cerebral palsy