Genetics

Most ALS cases are sporadic, but some are associated with inherited genetic variants.

Important ALS-related genes

SOD1

One of the best-studied ALS genes. Tofersen is relevant only for confirmed SOD1-associated ALS.

C9orf72

A common genetic cause of familial ALS and frontotemporal dementia spectrum disease.

FUS

Associated with some inherited forms, often with earlier onset in certain cases.

TARDBP

Encodes TDP-43, a protein involved in many ALS disease mechanisms.

TBK1, OPTN, NEK1

Other genes studied in ALS susceptibility and familial forms.

When genetic testing may be discussed

Testing may be considered when there is family history, early onset, atypical features, or when a specific therapy or clinical trial requires genetic confirmation.