0000000001143318
AUTHOR
M. Pugliatti
A 12-month prospective, observational study evaluating the impact of disease-modifying treatment on emotional burden in recently-diagnosed multiple sclerosis patients: The POSIDONIA study.
Abstract Introduction Depression and anxiety are common among patients with multiple sclerosis (MS) and are frequently present at the time of MS diagnosis. Methods POSIDONIA was a 12-month, observational, prospective study conducted in Italy to evaluate the impact of disease-modifying treatment (DMT) on emotional burden in patients with recently-diagnosed MS. The Hospital Anxiety and Depression Scale (HADS), specifically HADS anxiety (HADS-A) and depression (HADS-D) subscale scores, the Short-Form 36 Health Survey (SF-36) and the Impact of Event Scale – Revised (IES-R) were used to measure patient-reported outcomes. The Hamilton Depression Rating Scale (HDRS), HDRS-17, was used as a measure…
Genetic counselling in ALS: facts, uncertainties and clinical suggestions
The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle genetic counselling and testing both for ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of other late-onset life-threatening disorders, we propose clinical suggestions to enable neurologists to provide optimal clinical and genetic counselling to patients and…
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration. © 2014 Nature America, Inc. All rights reserved.