Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations.

Valter NiemeläAmmar SalihDaniela SoleaBjörn LindvallJan WeinbergGabriel MiltenbergerTobias GranbergAikaterini TzovlaLove NordinTorsten DanforsIrina SavitchevaNiklas DahlMartin Paucar

Published in: Neurology. Genetics (2020)

Larger longitudinal neuroimaging studies with different modalities, particularly MRS, are needed to determine their potential role as biomarkers for ChAc.

Keyphrases

case control
cross sectional