Significats de familial als en anglès

The mechanism by which mutations in SOD1 cause familial ALS is currently unknown.

These findings indicate considerable differences in the genetic variations associated with familial ALS across populations.

The identified gene will now provide clues to treat and understand sporadic and familial ALS.

The hypothesis that SMN2 is a prognostic factor in sporadic or familial ALS was not confirmed in this study.

Mounting genetic and functional evidence suggest that abnormalities in RNA processing and metabolism underlie motor neuron loss in sporadic and familial ALS.

We have recently identified SOD1 and FUS mutations as the most common causes in a consecutive series of 111 familial ALS pedigrees in Japan.