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- Shizuka Harada, Yoshiteru Azuma, Yohei Misumi, Hirotaka Hayashi, Soichiro Matsubara, Keiichi Nakahara, Satoko Miyatake, Naomichi Matsumoto, and Mitsuharu Ueda.
- Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Japan.
- Intern. Med. 2024 Sep 15; 63 (18): 255125532551-2553.
AbstractWe 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.
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