Studies in Amyotrophic Lateral Sclerosis (ALS) and Other Neurodegenerative Motor Neuron Disorders

Clinical & Genetic Studies in ALS and Other Neurodegenerative Motor Neuron Disorders

The purpose of this study is to collect, from patients with sporadic and familial ALS and their family members, clinical data and blood samples for extraction of DNA, RNA, preparation of lymphocytes, plasma and serum to establish a repository for future investigations of genetic contributions to ALS pathogenesis. Blood samples for DNA extraction also would be collected from control subjects with no personal or family history of ALS phenotypes.

Inclusion Criteria

ALS or Suspected ALS Patient

• Clinical diagnosis of possible, laboratory-supported probable, probable or definite ALS according to modified EL Escorial criteria, suspected ALS according to original El Escorial criteria, or diagnosis of a neurodegenerative disorder with evidence of ALS plus extramotor features; OR

• Blood relative (first, second or third degree) with history of ALS or neurodegenerative disorder with evidence of ALS plus extramotor features; OR:

  • A clinical suspicion or referral for ALS;
  • > 18 years of age;
  • Willing and able to give signed informed consent or assent that has been approved by the Institutional Review Board (IRB).

Blood Relative of ALS Patient

• Family history (first, second or third degree blood relative) of ALS or other motor neuron disease;
• > 18 years of age;
• Willing and able to give signed informed consent that has been approved by the Institutional Review Board (IRB).

Healthy Control

• No personal or family history (first, second or third degree blood relative) of ALS or other motor neuron disease;
• > 18 years of age;
• No personal history of other neurodegenerative disease (i.e., Alzheimer disease, Parkinson disease);
• Willing and able to give signed informed consent that has been approved by the Institutional Review Board (IRB).

Exclusion Criteria:

ALS or Suspected Patient • Limited mental capacity rendering the subject unable to provide written informed consent or assent or comply with standard phlebotomy procedures.

Blood Relative of ALS Patient

• Limited mental capacity rendering the subject unable to provide written informed consent or comply with standard phlebotomy procedures.

Healthy Control Subject

• Personal or family history of dementia or other neurodegenerative disease (Parkinson disease, Alzheimer disease, etc.);
• Limited mental capacity rendering the subject unable to provide written informed consent or comply with standard phlebotomy procedures.