A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review-Reference-Cited by-同舟云学术

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

Published:2024-01-29 Issue:2 Volume:25 Page:149-156
ISSN:1364-6753
Container-title:Neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

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

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10048-024-00746-y.pdf

Reference12 articles.

1. Fink JK (2013) Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 126(3):307–328. https://doi.org/10.1007/s00401-013-1115-8

2. Meyyazhagan A, Orlacchio A (2022) Hereditary spastic paraplegia: an update. Int J Mol Sci 23(3):1697. https://doi.org/10.3390/ijms23031697

3. Koul R, Al-Murshedi FM, Al-Azri FM, Mani R, Abdelrahim RA, Koul V et al (2013) Clinical spectrum of hereditary spastic paraplegia in children. Sultan Qaboos Univ Med J 13(3):371–379

4. Husain RA, Grimmel M, Matias Wagner J, Hennings C, Marx C, Feichtinger RG et al (2020) Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Am J Hum Genet 107(2):364–373. https://doi.org/10.1016/j.ajhg.2020.06.015

5. Ghosh SG, Lee S, Fabunan R, Chai G, Zaki MS, Abdel-Salam G et al (2021) Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genet Med 23(3):524–533. https://doi.org/10.1038/s41436-020-01010-y

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