motor neuron disease (MND) muscle disease
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Patients: i) For ALS patients: definite, probable, probable-laboratory supported or possible ALS according to the revised El Escorial criteria (Brooks 2000); familial ALS is defined only if there is a family history of ALS. ii) For progressive spinal muscular atrophy (PSMA) or primary lateral sclerosis (PLS): patients with clinical diagnosis of PSMA or PLS, after excluding other diseases. iii) Patients with *ALS mimic syndromes*: patients suspected of mimic disorders (e.g. multifocal motor neuropathy, inclusion body myositis, cervical myeloradiculopathy, myasthenia gravis, Kennedy*s disease). 2. Age 18 - 80 years (inclusive). 3. Capable of thoroughly understanding the study information given; has signed the informed consent.
Exclusion criteria
Exclusion criteria: 1) Tracheostomy, tracheostomal ventilation of any type, (non)-invasive ventilation; 2 ) Any history or presence of brain injury, epilepsy, psychiatric illness and other cerebral disease; 3) Any intoxication or medication known to have an association with motor neuron dysfunction, which might confound or obscure the diagnosis of motor neuron disease; 4) Presence of pronounced swallowing disorders (which make it dangerous to lie supine in the MRI scanner); 5) Contra-indication for 3 or 7Tesla MRI imaging (as established by the department); 6) Pregnancy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1) Cortical thickness, measured in T1 weighted images. The imaging data will be compared with controls and ALS mimic syndromes and to non-affected cortical regions in the same subjects (3Tesla and/or 7Tesla); 2).Structural connectivity of motor pathways with DTI and deterministic fiber tracking. (3Tesla); 3) Brain functional connectivity with resting-state fMRI (3Tesla and/or 7Tesla); 4) Glutamate/GABA intensity with MR spectroscopy (7Tesla). | — |
Secondary
| Measure | Time frame |
|---|---|
| The structural changes will be regarded in relation to the clinical condition, duration of illness and clinical parameters of motor function. | — |
Countries
Netherlands
Outcome results
None listed