The principal goal is to demonstrate that a specific pattern of microRNA (miRNA) expression can be correlated with the definite diagnostic of Amyotrophic Lateral Sclerosis (ALS). The investigators will use biological sample (from muscle biopsy, Cerebrospinal Fluid (CSF) and blood sample) collected in three control populations: definite ALS patients according to El Escorial diagnostic criterion, control patients without any neurological disease having an orthopedic surgery for shoulder disease, and control patient explored for peripheral neuropathy and myopathy. A second goal will correlate the miRNA pattern to the severity and/or progression rate of the motor neurons define as the progression rate of the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) score/year.
Name: Clinical evaluation
Description: Clinical evaluation using MRC scale, Norris bulbar scale, ALSFRS score and respiratory evaluation ( Vital Capacity, PiMax and SNIP) at M0, M4, M8, M12Type: OtherALS Patients
Name: Muscular biopsy
Description: Muscular biopsy at M0Type: ProcedureALS Patients
Name: Lumbar puncture
Description: Lumbar puncture at M0 and M12Type: ProcedureALS Patients
Name: Blood sampling
Description: Blood sampling at M0, M4, M4, M8 and M12Type: ProcedureALS Patients
Name: Neurological assessments
Description: Neurological assessments (MRC score and cognitive scales: MMS and BREF)Type: OtherControl patients suffering from myopathy Control patients suffering from neuropathy Control subjects
Name: Neuro-muscular biopsy and lumbar puncture
Description: Neuro-muscular biopsy and lumbar puncture for patients explored for peripheral neuropathyType: ProcedureControl patients suffering from neuropathy
Name: Muscular biopsy
Description: Muscular biopsy for patient explored for myopathyType: ProcedureControl patients suffering from myopathy Control subjects
Name: Blood sample
Description: Blood sample for qRT PCR, detection and quantification for miRNAType: ProcedureControl patients suffering from myopathy Control patients suffering from neuropathy Control subjects
Name: Cervical spinal cord and brain MRI
Description: ALS patients : MRI at inclusion and Month 8 Control patients suffering from neuropathy : MRI at inclusion and Month 8 Control patients suffering from myopathy : MRI at inclusion Control subjects : MRI at inclusionType: DeviceALS Patients Control patients suffering from myopathy Control patients suffering from neuropathy Control subjects
Description: miRNA expression pattern in ALS patients compared to control patients.
Measure: miRNA expression Time: At inclusion (day 0)Description: Evolution of miRNA expression level in blood and CSF of ALS patients
Measure: miRNA evolution Time: 12 months after inclusionDescription: Difference in diffusivity parameters of MRI between ALS subjects and control groups
Measure: Difference in diffusivity parameters of MRI Time: At inclusion (Day 0) and 8 month after inclusionCohort
There is one SNP
A more recent work on transgenic murine model SOD1 G93A has demonstrated the role of the specific miRNA206 in regulating the re-innervation processes at the neuro-muscular junction. --- G93A ---