{Reference Type}: Journal Article
{Title}: A Novel Mutation of VPS13D-related Disorders with Parkinsonism.
{Author}: Harada S;Azuma Y;Misumi Y;Hayashi H;Matsubara S;Nakahara K;Miyatake S;Matsumoto N;Ueda M;
{Journal}: Intern Med
{Volume}: 0
{Issue}: 0
{Year}: 2024 Feb 19
{Factor}: 1.282
{DOI}: 10.2169/internalmedicine.3101-23
{Abstract}: We herein report a case of VPS13D-related disorder with a novel homogeneous variant. A 58-year-old Japanese woman was referred to our hospital with slowly progressive gait disturbance and cognitive impairment. A neurological examination revealed decreased spontaneity, recent memory impairment, Parkinsonism, cerebellar ataxia, pyramidal signs, and autonomic dysfunction. Dopamine transporter single-photon-emission computed tomography showed a markedly reduced uptake in the striatum bilaterally. Whole-exome sequencing revealed a novel homozygous missense variant of the VPS13D gene (Arg3267Pro). Our case suggests that mutations in VPS13D may cause parkinsonism, in addition to the previously reported cerebellar ataxia and spastic paraplegia.