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Infantile Ascending Hereditary Spastic Paralysis with Extrapyramidal and Extraocular Manifestations Associated with a Novel ALS2 Mutation

10 Nov 2021

Abstract excerpt

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare autosomal recessive (AR) neurodegenerative disorder which can be associated with mutations in the alsin (ALS2) gene located on chromosome 2q33. ALS2 mutations have been linked to 2 other AR neurodegenerative disorders, including juvenile primary lateral sclerosis (JPLS) and juvenile amyotrophic lateral sclerosis (JALS/ALS2). The clinical...

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PMID: 35005076
DOI: 10.1002/mdc3.13372

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