Two German Kindreds With Familial Amyotrophic Lateral Sclerosis Due to TARDBP Mutations

Abstract excerpt

BACKGROUND: Abnormal neuronal inclusions composed of the transactivation response DNA-binding protein 43 (TDP-43) are characteristic neuropathologic lesions in sporadic and familial forms of amyotrophic lateral sclerosis (ALS). This makes TARDBP, the gene encoding for TDP-43, a candidate for genetic screening in ALS. OBJECTIVES: To investigate the presence and frequency of TARDBP mutations in ALS. DESIGN: Genetic...

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