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Article

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

Neurogenetics - 1 Apr 2024

Kojima Fumikazu, Okamoto Yuji, Ando Masahiro, Higuchi Yujiro, Hobara Takahiro, Yuan Junhui, Yoshimura Akiko, Hashiguchi Akihiro, Matsuura Eiji, Takashima Hiroshi

Abstract excerpt

Biallelic variants of 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) gene have been linked to neurodegenerative disorders ranging from severe neonatal encephalopathy to early-onset spastic paraplegia. We identified a novel homozygous variant, c.340G > T (p.Gly114Cys), in the HPDL gene in two siblings with autosomal recessive hereditary spastic paraplegia (HSP). Despite sharing the same likely pathogenic variant,...

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PMID: 38286980
DOI: 10.1007/s10048-024-00746-y

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