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Background:  ALS patients with a negative family history (sporadic ALS, SALS) represent more than 90% of all ALS cases. In light of the gene-specific therapies that are currently in development for ALS, knowledge about the genetic landscape of SALS in Germany is urgently needed.  Objectives:  We aimed to determine the frequency of  C9orf72  hexanucleotide repeat expansion (HRE) and  SOD1  mutations among patients in Germany with a diagnosis of sporadic or idiopathic ALS.  Methods : We genotyped SALS patients from three German ALS centers. Sanger sequencing, fragment length analysis, and repeat-primed PCR technologies were used to detect mutations in  SOD1  and  C9orf72  HRE. Pathological  C9orf72  HRE results were confirmed in an independent laboratory.  Results : In 302 patients with SALS, 27 (8.9%) patients with a  C9orf72  HRE mutation were detected. Moreover, we identified two patients with a pathogenic  SOD1  mutation, one patient with a heterozygous p.D91A mutation in  SOD1,  and three additional patients with rare  SOD1  variants not predicted to change the amino acid sequence.  Conclusions : According to our data, the proportion of SALS patients with  SOD1  mutations is in the expected range, whereas that with  C9orf72  HRE is higher, suggesting a reduced penetrance. A considerable number of SALS patients can be amenable to gene-specific therapies.

Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers