Infantile Ascending Hereditary Spastic Paralysis with Extrapyramidal and Extraocular Manifestations Associated with a Novel ALS2 Mutation
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DOI: 10.1002/mdc3.13372
Abstract: 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… read more here.
Keywords: age; hereditary spastic; spastic paralysis; novel als2 ... See more keywords