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FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability

6 Jul 2022

Abstract excerpt

Background and Objectives Amyotrophic lateral sclerosis (ALS) is characterized by upper and lower motor neuron degeneration, with juvenile ALS (jALS) defined as disease with age at onset (AAO) before 25 years. We aimed to identify the genetic basis of 2 unrelated patients with jALS with very rapid deterioration and early age intellectual disability (ID) and to assess association of genetic findings with both...

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PMID: 35812163
DOI: 10.1212/nxg.0000000000200009

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