Genetics Repository of Neurologic and Neuromuscular Disorders

Eligibility

Patients will be recruited from the Cedars-Sinai Neuromuscular/Neurologic Disease Clinic. Subjects will be from one of three groups:

Group 1: Consists of adults and children with a neurologic or neuromuscular disorder
Group 2: Consists of adults who are family members of individuals in group 1
Group 3: Consists of unrelated healthy adults who are used as a comparison group

Key Inclusion Criteria for Group 2 or Group 3 Subjects

  • Males or females of any race aged 18 or older
  • No evidence of a neurologic disorder by history or examination
  • Subjects must be able to provide informed consent
  • Absence of exclusion criteria 

Key Exclusion Criteria for Group 2 or Group 3 Subjects

  • Any active dermatologic disease
  • Any connective tissue disease including systemic lupus erythematous, Sjögren's syndrome, scleroderma or mixed connective tissue disease
  • Active skin infection at biopsy site
  • Taking warfarin or other anti-coagulant except aspirin or an anti-platelet agent
  • History of bleeding disorder
  • Allergy to Lidocaine
  • Pregnant subjects will not be eligible to undergo a lumbar puncture

Key Inclusion Criteria for Group 1 Subjects

  • Males or females of any age or race
  • Evidence of a neurologic or neuromuscular disorder
  • Subjects must be able to provide informed consent
  • Absence of exclusion criteria

Key Exclusion Criteria for Group 1 Subjects

  • Any active dermatologic disease
  • Any connective tissue disease including systemic lupus erythematous, Sjögren's syndrome, scleroderma or mixed connective tissue disease
  • Active skin infection at biopsy site
  • Taking warfarin or other anti-coagulant except aspirin or an anti-platelet agent
  • History of bleeding disorder
  • Allergy to Lidocaine
  • Pregnant subjects will not be eligible to undergo a lumbar puncture
  • Children, aged infant to 17, will only have collection of additional CSF for research purposes if they are undergoing a lumbar puncture for a clinical indication

Full Study Name

Genetics Repository of Neurologic and Neuromuscular Disorders (IRB no. 28662)

Summary

The purpose of this study is to establish a repository of DNA and tissue samples to be used for future research studies investigating the clinical and genetic features of various types of neurologic and neuromuscular conditions. The repository is a collection of data and/or specimens that are stored with the intent of supporting future research. The results of such studies will help to contribute to the knowledge of both the diagnosis and possible treatment of these disorders. This study involves the one-time collection of a blood, skin, and/or cerebrospinal fluid sample.


Principal Investigator

Robert Baloh, MD, PhD

Contact

Peggy Allred, PT, DPT
424-315-2694
peggy.allred@cshs.org