Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)

Volunteers will be invited to participate in this study by their neurologists either in clinic or at a regular scheduled appointment visit.

1. ALS Volunteers

   Inclusion Criteria:

   • Diagnosis of possible (excluding volunteers with UMN signs ONLY), probable, probable-laboratory supported, or definite ALS, either sporadic or familial according to revised El Escorial criteria
   • Disease duration of less than or equal to two years from symptom onset
   • Age 30-80 years at the time of disease onset
   • Ability to provide informed consent
   • Ability to comply with study procedures
   • Medically safe to have lumbar puncture (lumbar puncture volunteers only)

   Exclusion Criteria:

   • Clinical evidence of chronic liver or renal failure
   • Presence of a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (lumbar puncture volunteers only)
   • Use of any anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (lumbar puncture volunteers only)

2. Suspected ALS (PMND) Volunteers

   Inclusion Criteria:

   • Diagnosis of suspected ALS defined as presence of UMN or LMN signs alone and the diagnosis of Clinically Probably Laboratory-Supported ALS CANNOT be proven by evidence in clinical grounds in conjunction with electrodiagnostic, neurophysiologic, neuroimaging or clinically laboratory studies
   • Disease duration of less than or equal to four years from symptom onset
   • Age 30-80 years at time of disease onset
   • Ability to provide informed consent
   • Ability to comply with study procedures
   • Medically safe to have lumbar puncture (lumbar puncture volunteers only)

   Exclusion Criteria:

   • Clinical evidence of chronic liver or renal failure
   • Genetically confirmed diagnosis of hereditary spastic paraparesis or spinal motor atrophy (SMA) disease
   • Presence of a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (lumbar puncture volunteers only)
   • Use of any anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (lumbar puncture volunteers only)

3. Neurological Disease Mimic Volunteers

   Inclusion Criteria:

   Diagnosis of one of the following:

   Pure Lower Motor Neuron Disease (LMND) mimics:

   • Multi-focal motor neuropathy
   • Autoimmune motor neuropathy
   • Cervical or lumbosacral radiculopathies

   Peripheral mononeuropathies:

   • Ulnar neuropathy
   • Carpal tunnel syndrome/median neuropathy
   • Peroneal neuropathy
   • Sciatic neuropathy
   • Spinal muscular atrophy
   • Spinobulbar muscular atrophy (Kennedy's disease)
   • Charcot Marie-Tooth Disease (CMT)

   Pure Upper Motor Neuron Disease (UMND) mimics:

   • Cervical myelopathy
   • Multiple sclerosis
   • Hereditary spastic paraparesis
   • Age 30-80 years
   • Ability to provide informed consent
   • Ability to comply with study procedures
   • Medically safe to have lumbar puncture (lumbar puncture volunteers only)

   Exclusion Criteria:

   • Diagnosis of suspected, possible, probable or definite ALS either sporadic or familial
   • Presence of positive family history of ALS
   • Clinical evidence of chronic renal or liver failure
   • Presence of a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (lumbar puncture volunteers only)
   • Use of any anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (lumbar puncture volunteers only)

4. Healthy Control Volunteers Inclusion Criteria

   • Absence of a known neurological disorder.
   • Age 30 - 80 years.
   • Ability to provide informed consent.
   • Ability to comply with study procedures.
   • Medically safe to have lumbar puncture.

Exclusion Criteria:

• History of ALS, myopathy, neuropathy, ALS mimic disorder or other neurodegenerative disease.
• Presence of positive family history of ALS.
• Clinical evidence of chronic liver or renal failure.
• Presence of bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (LP research volunteers only).
• Research participant must not be taking anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (LP research volunteers only).