A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review

This study was supported, in part, by grants from the research on the Nervous and Mental Disorders and Research Committee for Charcot–Marie–Tooth Disease, Neuropathy, Ataxic Disease and Applying Health and Technology of Ministry of Health, Welfare and Labour, Japan. This research was supported by Japan Agency for Medical Research and Development (AMED) under Grant Numbers JP16ek0109010h0003 and JP23ek0109625h0001. This research was also supported by JSPS KAKENHI Grant Numbers JP18H02742, JP20K16604, JP21K15702, JP21H02842, JP22K15713, JP22K07495, JP22K07519, JP23K06931, and JP23K06966.

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