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Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Correspondence.

作者信息

Finsterer Josef

机构信息

Neurology & Neurophysiology Center, Postfach 20, 1180, Vienna, Austria.

出版信息

Indian J Pediatr. 2024 Sep;91(9):988. doi: 10.1007/s12098-024-05106-0. Epub 2024 Mar 22.

DOI:10.1007/s12098-024-05106-0
PMID:38514515
Abstract
摘要

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本文引用的文献

1
Rare Treatable Neurometabolic Condition - Adenosine Kinase Deficiency.罕见可治性神经代谢疾病——腺苷激酶缺乏症
Indian J Pediatr. 2024 Oct;91(10):1108. doi: 10.1007/s12098-024-05190-2. Epub 2024 Jun 17.
2
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.两例中国同胞早发性进行性遗传性痉挛性截瘫（IAHSP）的临床特征和分子遗传学研究，其致病原因为 ALS2 剪接位点的一个新变异。
BMC Med Genomics. 2024 Jan 31;17(1):44. doi: 10.1186/s12920-024-01805-x.
3
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis.
一个伊朗库尔德家族的少年型肌萎缩侧索硬化症中 ALS2 基因的新突变。
Amyotroph Lateral Scler Frontotemporal Degener. 2023 Feb;24(1-2):148-151. doi: 10.1080/21678421.2022.2100263. Epub 2022 Jul 19.
4
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.遗传性痉挛性截瘫，具有常染色体显性、隐性、X 连锁或母系遗传特征。
J Neurol Sci. 2012 Jul 15;318(1-2):1-18. doi: 10.1016/j.jns.2012.03.025. Epub 2012 May 1.