Amyotrophic Lateral Sclerosis, Motor Neuron Disease
Conditions
Brief summary
Study Description: Characterization of Motor Neuron Disease Phenotypes The goal of this observational study is to understand the clinical presentation of motor neuron disease (MND) in patients attending the Neurology Department of the Istituto Auxologico Italiano. The main questions it aims to answer are: * What are the specific clinical phenotypes associated with MND? * How can these phenotypes contribute to a better understanding of the disease's underlying mechanisms and improve prognostic accuracy? Participants will undergo: * Clinical evaluation using validated scales * Neurophysiological and neuroradiological instrumental assessment * Neuropsychological evaluation * Collection of biological materials for genetic screening and biomarker assessment, if necessary.
Interventions
None listed
Sponsors
Istituto Auxologico Italiano
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* diagnosis of ALS or other motor neuron disease
Exclusion criteria
* refusal to participate to the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| no. of patients with classic ALS | baseline (at diagnosis), at 1 year | no. of patients with classic ALS |
| no. of patients with bulbar ALS | baseline (at diagnosis), at 1 year | no. of patients with bulbar ALS |
| no. of patients with LMN phenotypes (flail arm, flail leg, PMA) | baseline (at diagnosis), at 1 year | no. of patients with LMN phenotypes (flail arm, flail leg, PMA) |
| no. of patients with UMN phenotypes (pyramidal ALS, PLS) | baseline (at diagnosis), at 1 year | no. of patients with UMN phenotypes (pyramidal ALS, PLS) |
Countries
Italy
Contacts
Primary ContactNicola Ticozzi, MD, PhD
Outcome results
None listed