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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects both upper and lower motor neurons in the motor cortex of the brain, brainstem, and spinal cord. Because of the progressive degeneration of motor neurons, ALS eventually leads to their death. Degenerating motor neurons develop protein-rich inclusions in their cell bodies and axons, which may be due to, at least in part, defects in protein degradation. Recently, focus on RNA metabolism and protein degradation disorders in familial ALS has intensified. The most frequently encountered disorders involve ubiquitin, superoxidase dismutase (SOD1), TAR DNA-binding protein (TDP-43 or TARDBP), or fused in sarcoma (FUS) (1).

A Turkish Family with a Familial ALS-positive UBQLN2-S340I Mutation