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Article

Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients

1 Jan 2018

Abstract excerpt

The aim of our study was to evaluate the role of mutations in the MAPT gene in patients with pure amyotrophic lateral sclerosis (ALS). A cohort of 120 ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including MAPT, known to be associated with ALS and frontotemporal dementia. The presence of the...

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PMID: 30893702
DOI: 10.1159/000497820

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