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Article

Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.

American journal of medical genetics. Part A - 1 Apr 2026

Colona Vito Luigi, Gnazzo Maria, Genovese Silvia, Vasco Gessica, Travaglini Lorena, Sabbadini Maurizio, Macchiaiolo Marina, Nicita Francesco, Sartorelli Jacopo, Piscopo Carmelo, Castelli Enrico, Bertini Enrico, Bartuli Andrea, Novelli Antonio, Bella Gessica Della, Vecchio Davide

Abstract excerpt

We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8-year-old boy with Infantile-onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2-related disorders. Comprehensive neurological evaluation, chromosomal microarray analysis (CMA), and trio-based whole exome sequencing (WES) were performed. CMA revealed...

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Identifiers

PMID: 41294049
DOI: 10.1002/ajmga.70010

Genes

ALS2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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