Role of < b > < i > MAPT < /i > < /b > in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients

The aim of our study was to evaluate the role of mutations in theMAPT 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, includingMAPT, known to be associated with ALS and frontotemporal dementia. The presence of theC9orf72 expansion was also investigated. Twelve patients had mutations in theSOD1, TARDBP, MATR3, andFUS genes, while 10 patients carried theC9orf72 expansion. One female patient was found to carry the D348G mutation inMAPT, previously reported in an Italian family with lower motor neuron disease. Our patient presented both upper and lower motor neuron signs, early development of dyspnea, resting and kinetic tremor, and a slow disease course (#x3e; 11 years). The present case further broadens the clinical phenotype associated withMAPT mutations and suggests that, although rarely,MAPT mutations can cause ALS and, therefore, should be analyzed in ALS patients, especially in those with early breathing difficulties and long-lasting disease.Neurodegener Dis 2018;18:310 –314
Source: Neurodegenerative Diseases - Category: Neurology Source Type: research