Genetics of Familial and Sporadic ALS

The investigators long term goals are to improve diagnosis and develop effective treatments
that arrest or ameliorate symptoms of ALS, and possibly delay or prevent disease onset in
individuals at risk for developing familial ALS (FALS). In order to do this one must
understand how disease develops at a molecular level. Identification of genes that increase
risk for developing all types of ALS will reveal the pathways of molecular events that are
involved in ALS.

The investigators are collecting blood samples, family and medical histories of patients with
all types of ALS, (familial and sporadic, with and without frontotemporal dementia, and
primary lateral sclerosis and particular family members. Samples are coded to maintain
confidentiality. Travel is not necessary.

As well as seeking to identify new genes implicated in ALS, the investigators continue our
study of families with known genetic mutations to more fully characterize that disease
mechanism.

Linkage analysis and affected relative pair analysis will be used to identify causative FALS
genes and disequilibrium analysis and association studies are being done for sporadic ALS.

Results from these studies will provide insight into the underlying disease mechanisms of ALS
and provide targets for therapeutic interventions.

Inclusion Criteria:

- Patients with Amyotrophic Lateral Sclerosis or ALS and frontotemporal dementia

- Selected family members, generally brothers and sisters of an ALS patient, the
patient's parents

Exclusion Criteria:

- Under 18 years old