skip to Main Content

Phenotype, Genotype & Biomarkers in ALS and Related Disorders


Brief Summary:

The goals of this study are: (1) to better understand the relationship between the phenotype
and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary
lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy
(PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful
in aiding therapy development for this group of disorders.


Inclusion Criteria:

– Member of at least one of the following categories:

1. Individuals with a clinical diagnosis of ALS or a related disorder, including
FTD, HSP, PLS, PMA and MSP (sporadic or familial).

2. Family member of an enrolled affected individual.

– Able and willing to comply with relevant procedures.

Exclusion Criteria:

– Affected with end or late stage disease.

– A condition or situation which, in the PI’s opinion, could confound the study finding
or may interfere significantly with the individual’s participation and compliance with
the study protocol. This includes (but is not limited to) neurological, psychological
and/or medical conditions.


  • Stanford University, Palo Alto, California, United States, 94304
  • University of California San Diego (UCSD), San Diego, California, United States, 92093
  • California Pacific Medical Center (CPMC), San Francisco, California, United States, 94115
Back To Top