Tissue Repository for Neurodegenerative Diseases

Principal Investigator: Stefan Pulst
Keywords: ataxia , parkinson's , alzheimer's , ALS Department: Neurology
IRB Number: 00035351 Co Investigator:  
Specialty: Neurology, Neurology, Neurology
Sub Specialties: Alzheimer's Disease, Ataxia, ALS
Recruitment Status: Recruiting

Contact Information

Karla Figueroa

Brief Summary

Study Purpose:

This purpose of this study is to learn more about neurodegenerative diseases.  In particular, to determine the genetic basis of these diseases, heath and response traits associated with neurodegeneration. 


The objectives of this study are to:

  1. Operate as a tissue repository for existing cell lines to be used as needed for genetic studies including but not limited to mutation analyses for age of onset modifiers, disease candidate genes, protein interactors, linkage studies and or drug trials.  


We have cell lines that were transferred to the University of Utah from our previous institution Cedars Sinai Medical Center, all samples prior to 2000 have either the patient full name, family name or name initials.  Approximately 95% of the samples will also contain the disease status and in the case of multiple samples from the same kinship relationship of one patient to the other such as sibship or spouse.  These cell lines were frozen prior to HIPPA regulations regarding PHI on samples.  As cell lines are used and thawed the identifiers are removed and the new batches coded.


  1. To actively collect tissues for banking purposes of any and all neurodegenerative diseases patients presented at our various clinics in addition to the collection of “normal” control individuals to aid in to elucidate in the:
    1.  Susceptibility to get the disease, absence of disease,
    2. Disease progression or prognosis,
    3. And response to environment and medications.


We view this study as a minimal risk study since participation in the research be no greater than those encountered by the subject in those aspects of his or her everyday life that relate to the research  therefore we believe that his research can be regarded as within the range of minimal risk.

Inclusion Criteria

1. For the cell lines transferred from Cedars Sinai Medical Center no participants were excluded. This is a cohort of ataxia patients that were recruited due to their manifesting phenotype during clinical examination. If the patient was noted to be a sporatic case then no family members were obtained it the patient was found to have a familial case other family members were recruited and blood was obtained and lymphoblast cell lines were created. A total of 201 cell lines were transferred from Cedars Sinai Medical Center to the University of Utah.
2. For our Tissue Repository: no one will be excluded as participation is voluntary and the purpose of this study is to collect tissues of both affected, at risk and normal individuals.  We would like to enroll approximately 1000 patients from our Neurology Clinics. The focus of recruitment will be for patients afflicted with Parkinson’s Disease, Degenerative Ataxias, Amyotrophic Lateral Sclerosis (ALS) and Alzheimer’s Disease but will include anyone with a Neurodegenerative Disorder willing and able to participate

Exclusion Criteria