Direct Sanger sequence analysis of all available family members, including deceased member 1810-VI-2 (from dried umbilical cord) demonstrated segregation according to a strict recessive mode of inheritance (Figure S1C), consistent with pathogenesis. Obligate carriers were entirely normal. We further found no other CLP1 mutations in any other patient in our collective cohorts with overlapping clinical features, nor any from an additional directly sequenced cohort of 100 cases with familial motor neuron disease.
