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29-01-2024 | Spastic Paraplegia | Short Communication

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

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

Published in: Neurogenetics | Issue 2/2024

Abstract

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, the older sister had pure HSP, whereas her brother had severe and complicated HSP, accompanied by early-onset mental retardation and abnormalities in magnetic resonance imaging. Given the clinical heterogeneity and potential for treatable conditions in HPDL-related diseases, we emphasize the importance of genetic testing for the HPDL gene.

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Title: A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
Authors: Fumikazu Kojima
Yuji Okamoto
Masahiro Ando
Yujiro Higuchi
Takahiro Hobara
Junhui Yuan
Akiko Yoshimura
Akihiro Hashiguchi
Eiji Matsuura
Hiroshi Takashima
Publication date: 29-01-2024
Publisher: Springer Berlin Heidelberg
Keywords: Spastic Paraplegia
Tetraparesis
Cranial MRI
Disorders of Intellectual Development
Intellectual Disability
Published in: Neurogenetics / Issue 2/2024
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-024-00746-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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