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Indian Journal of Pediatrics

22-03-2024 | Amyotrophic Lateral Sclerosis | Correspondence

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

Author: Josef Finsterer

Published in: Indian Journal of Pediatrics

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Excerpt

To the Editor: The interesting article by Gowda et al. published in IJP about a three-year-old female with juvenile amyotrophic lateral sclerosis (ALS) due to the homozygous nonsense variant c.4261C>T p.(Arg1421*) in exon 27 of the ALS2 gene, requires discussion of several points. …
Literature
1.
2.
Daneshmandpour Y, Bahmanpour Z, Kazeminasab S, et al. A novel mutation in the ALS2 gene in an Iranian Kurdish family with juvenile amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2023;24:148–51.CrossRefPubMed
3.
Zhang Q, Yang Q, Luo J, et al. 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. BMC Med Genomics. 2024;17:44.CrossRefPubMedPubMedCentral
4.
Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci. 2012;318:1–18.CrossRefPubMed
Metadata
Title
Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Correspondence
Author
Josef Finsterer
Publication date
22-03-2024
Publisher
Springer India
Published in
Indian Journal of Pediatrics
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-024-05106-0