Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders

The investigators laboratory has been studying families with a history of ALS for more than
25 years and is continuing to use new ways to understand how genes may play a role in ALS,
motor neuron disease and other neuromuscular disorders.

The purpose of this study is to identify additional genes that may cause or put a person at
risk for either familial ALS (meaning 2 or more people in a family who have had ALS),
sporadic ALS, or other forms of motor neuron disease in the hopes of improving diagnosis and
treatment. As new genes are found that may be linked to ALS in families or individuals, the
investigators can then further study how that gene may be contributing to the disease by
studying it down to the protein and molecular level. This includes all forms of ALS, motor
neuron disease and ALS with fronto-temporal dementia(ALS/FTD). We also continue to study
other forms of neuromuscular disease such as Miyoshi myopathy, FSH dystrophy and other forms
of muscular dystrophy by looking at the genes that may be associated with them.

There have been a number of genes identified that are associated both familial and sporadic
ALS, with the SOD1, C9orf72, and FUS genes explaining the majority of the cases. However, for
about 30% of families with FALS, the gene(s) are still unknown.

The investigators also will continue to work with families already identified to carry one of
the known genes associated with ALS.