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

Paola Origone, Alessandro Geroldi, Merit Lamp, Francesca Sanguineri, Claudia Caponnetto, Corrado Cabona, Fabio Gotta, Lucia Trevisan, Emilia Bellone, Fiore Manganelli, Grazia Devigili, Paola Mandich

Research output: Contribution to journalArticlepeer-review


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 C9orf72 expansion was also investigated. Twelve patients had mutations in the SOD1, TARDBP, MATR3, and FUS genes, while 10 patients carried the C9orf72 expansion. One female patient was found to carry the D348G mutation in MAPT, 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 (> 11 years). The present case further broadens the clinical phenotype associated with MAPT 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.

Original languageEnglish
JournalNeurodegenerative Diseases
Publication statusPublished - Mar 20 2019

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


Dive into the research topics of 'Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients'. Together they form a unique fingerprint.

Cite this