Abstract:Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early onset, autosomal recessive motor neuron disease characterized by progressive weakness and spasticity. Several mutations in the alsin 2 gene (ALS2) have been described in IAHSP patients; however, a relevant subset of patients is ALS2 mutationnegative, and pathogenic events causing the disease are unknown. The present study aimed at better understanding the molecular mechanisms underlying motor neuron loss in IAHSP patients by identi… Show more
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