Tokyo-Kita Medical Center

Parkinsonism with Reduced Striatal Uptake on DAT-SPECT in a Patient Harboring a Novel KCND3 Variant

KCND3 encodes the voltage-gated potassium channel Kv4.3, and pathogenic variants in KCND3 are associated with spinocerebellar ataxia type 19/22 (SCA19/22) and related neurological phenotypes. Here, we report a Japanese patient harboring a novel KCND3 missense variant, classified...