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Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities (NEDSWMA).

作者信息

Chityala Ashwini, Gunasekaran Pradeep Kumar, Tiwari Sarbesh, Sinha Rahul Prasad, Saini Lokesh

机构信息

Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, 342005, Rajasthan, India.

Department of Pediatrics, NYC Health + Hospitals/Harlem, New York, 10037, USA.

出版信息

Indian J Pediatr. 2025 Jul 25. doi: 10.1007/s12098-025-05685-6.

DOI:10.1007/s12098-025-05685-6
PMID:40711653
Abstract
摘要

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本文引用的文献

1
Two novel heterozygous HPDL variants in a Chinese family with a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.一个中国家庭中存在神经发育障碍伴进行性痉挛和脑白质异常的两个新型杂合 HPDL 变异。
Gene. 2025 Jan 20;934:149018. doi: 10.1016/j.gene.2024.149018. Epub 2024 Oct 19.
2
HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.外显子组测序鉴定的 HPDL 突变与婴儿神经发育障碍有关。
Mol Genet Genomic Med. 2022 Oct;10(10):e2025. doi: 10.1002/mgg3.2025. Epub 2022 Aug 19.
3
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
双等位基因 HPDL 变异导致从新生儿脑病到青少年发病的痉挛性截瘫的神经退行性疾病。
Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23.