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Novel missense mutation in <i>ALS2</i> gene results in infantile ascending hereditary spastic paralysis

22 May 2006

Abstract excerpt

OBJECTIVE: Recessive mutations in ALS2 (juvenile amyotrophic lateral sclerosis) are causative for early-onset upper motor neuron diseases, including infantile ascending hereditary spastic paralysis (IAHSP). The goal of this study is to identify novel disease-causing ALS2 mutations. METHODS: Mutations in ALS2 were screened by direct sequencing of complementary DNA obtained from patients' lymphoblasts. RESULTS: We...

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PMID: 16718699
DOI: 10.1002/ana.20879

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