The purpose of this study is to collect 600 blood samples and 210 cerebrospinal fluid (CSF) samples from people with amyotrophic lateral sclerosis (ALS), pure lower or upper motor neuron diseases, and other neurodegenerative diseases, as well as from healthy volunteers. 

Through comparison of these samples, the researchers hope to learn more about the underlying causes of ALS, as well as find unique biological markers, which could be used to diagnose ALS and monitor disease progression.

Researchers tested what changes happen in volunteers with ALS that can be seen in the blood and what changes are unique to ALS and are different from those found in healthy volunteers and volunteers with neurological diseases other than ALS.

These changes are called biomarkers. Biomarkers for ALS have been found in blood collected in earlier phases of this study. Biomarkers are nongenetic elements in the blood that may help make diagnosing ALS easier.

In the next phase, comparison of these changes in the blood of volunteers with ALS and without ALS will be used to confirm these biomarkers and to develop a tool to diagnose and monitor progression of ALS.

Volunteers will be enrolled into one of four groups. Volunteers may have their blood drawn up to three times and may have cerebrospinal fluid (CSF) drawn once.  The researchers will collect information on diagnosis, vital signs, medical history and medications, as well as contact participants by telephone up to three times.

The investigators will collect 600 blood samples from four groups: ALS volunteers diagnosed with ALS; volunteers with pure lower or pure upper motor neuron diseases; volunteers with other neurological diseases; and healthy volunteers ("controls").

They'll collect 210 cerebrospinal fluid (CSF) samples from a group of volunteers with ALS, with pure lower or pure upper motor neuron diseases, and with other neurological diseases. Collecting CSF involves having a needle inserted into the fluid surrounding the spinal cord. This is called a lumbar puncture.

ALS-affected participants must

• have a diagnosis of possible, probable, probable-laboratory supported, or definite ALS, either sporadic or familial, according to modified El Escorial criteria
• have a disease duration of less than or equal to two years from symptom onset
• be 40-70 years at the time of disease onset
• be able to provide informed consent
• be able to comply with study procedures
• be medically safe to have lumbar puncture (lumbar puncture volunteers only)
• be without any of the exclusion criteria

ALS-affected participants must not

• have clinical evidence of chronic liver or renal (kidney) failure
  require artificial respiration (ventilation)
• have a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the lumbar puncture site (lumbar puncture volunteers only)
• use any anti-platelet or anticoagulant drugs, such as Plavix, Aggrenox, Ticlid, warfarin or coumadin (lumbar puncture volunteers only)

Participants with suspected ALS must

• have a diagnosis of suspected ALS according to modified El Escorial criteria
• have a disease duration of less than or equal to two years from symptom onset
• be 40-70 years at time of disease onset
• be able to provide informed consent
• be able to comply with study procedures
• be medically safe to have lumbar puncture (lumbar puncture volunteers only)

Participants with suspected ALS must not

• have clinical evidence of chronic liver or renal (kidney) failure
• have a genetically confirmed diagnosis of hereditary spastic paraparesis or spinal motor atrophy (SMA) disease
• require artificial respiration (ventilation)
• have a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the lumbar puncture site (lumbar puncture volunteers only)
• use any anti-platelet or anticoagulant drugs, such as Plavix, Aggrenox, Ticlid, warfarin or coumadin (lumbar puncture volunteers only)

Participants with other neurological diseases must

• have a diagnosis of multifocal motor neuropathy, autoimmune motor neuropathy, cervical or lumbosacral radiculopathy, ulnar neuropathy, carpal tunnel syndrome/median neuropathy, peroneal neuropathy, sciatic neuropathy, spinal muscular atrophy, spinal-bulbar muscular atrophy (Kennedy's disease), cervical myelopathy, multiple sclerosis, or hereditary spatic paraparesis
• be 40-70 years old
• be able to provide informed consent
• be able to comply with study procedures
• be medically safe to have lumbar puncture (lumbar puncture volunteers only)

Participants with other neurological diseases must not

• have a diagnosis of suspected, possible, probable or definite ALS, either sporadic or familial, according to modified El Escorial criteria
• have a positive family history of ALS
• have clinical evidence of chronic renal (kidney) or liver failure
• have more than one neurological disease
• require artificial respiration (ventilation)
• have a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the lumbar puncture site (lumbar puncture volunteers only)
• use any anti-platelet or anticoagulant drugs, such as Plavix, Aggrenox, Ticlid, warfarin or coumadin (lumbar puncture volunteers only)

Healthy volunteers must

• be 40-70 years old
• be able to provide informed consent
• be able to comply with study procedures

Healthy volunteers must not

• have a known neurological disorder
• have a history of ALS, myopathy, neuropathy, ALS mimic disorder or other neurodegenerative disease
• have a family history of ALS
• have clinical evidence of chronic liver or renal (kidney) failure