JNNP: Using an intermediate ATXN2-polyQ repeat, to explore phenotyping in patients with Italian ALS

Amyotrophic lateral sclerosis (ALS) is a multisystem disease in adult life characterized by progressive degeneration of upper and lower motor neurons and frontotemporal cortical neurons
.

The study population included 1487 patients with
ALS.

Neurobehavioral dysfunction is identified by the Frontal System Behavior Scale (FrSBe), using the family form assessed by caregivers (score: normal≤ 59, critical line 60-64; Not normal ≥65).

Intermediate repetitions of ATXN2-polyQ that have survived from onset of disease

42 and 4 control ≥ 31 polyQ replicates corresponding to an estimated OR of 10.

A large population-based cohort of Italian ALS patients without C9orf72, SOD1, TARDBP and FUS gene mutations was evaluated to determine the clinical features
of ATXN2 polyQ intermediate repeat numbers.

In summary, in the population-based cohort of Italian ancestry patients, patients with ALS carrying intermediate ATXN2 polyQ repeat ≥31 were found to have a unique phenotype, characterized by a faster course of disease, a 1.