Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic <i>de novo</i> Missense Variant in <i>KIF1A</i>
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- Nakamura Katsuya
- Center for Medical Genetics, Shinshu University Hospital, Japan Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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- Yoshinaga Tsuneaki
- Center for Medical Genetics, Shinshu University Hospital, Japan Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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- Kodaira Minori
- Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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- Kise Emiko
- Center for Medical Genetics, Shinshu University Hospital, Japan Department of Nursing, Shinshu University Hospital, Japan
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- Kosho Tomoki
- Center for Medical Genetics, Shinshu University Hospital, Japan Department of Medical Genetics, Shinshu University School of Medicine, Japan
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- Sekijima Yoshiki
- Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
抄録
<p>We encountered a 37-year-old Japanese man with KIF1A-associated neurological disorder (KAND) who exhibited motor developmental delay, intellectual disability, and slowly progressive cerebellar ataxia, hypotonia, and optic neuropathy. Pyramidal tract signs were evident late in this case. At 30 years old, the patient developed a neurogenic bladder. A molecular diagnosis revealed a uniallelic missense de novo variant (p.L278P) of KIF1A. Serial neuroradiological studies revealed atrophy of the cerebellum at an early age, and cerebral hemisphere atrophy progressed slowly over a 22-year observation period. Our study suggests that the primary etiology of KAND may be acquired, long-standing neurodegeneration rather than congenital hypoplasia. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 62 (20), 3047-3051, 2023-10-15
一般社団法人 日本内科学会