Phenotypic and genotypic studies of ALS cases in ALS-SMA families


Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. Here, the authors aimed to collect families in which ALS and SMA patients co-exist and describe the phenotype and the genotype of ALS patients. Their data show that out of the nine families, six corresponded to the criteria of familial ALS (FALS). Clinical data were available for 11 patients out of the 15 ALS cases. Mean age of onset was 58.5 years, site of onset was lower limbs in nine cases (81.8%), median duration was 22 months. Four ALS patients carried a mutation: three mutations in SOD1 gene (G147N in two cases and one with E121G) and one repeat expansion in the C9ORF72 gene. Three patients had abnormal SMN1 copy numbers. The authors conclude that while the high proportion of familial history of ALS cases in these ALS-SMA pedigrees could have suggested that these familial clusters of the two most frequent MND rely on a genetic background, we failed to exclude that this occurred by chance.

Corcia P, Vourc’h P, Blasco H, et al. Phenotypic and genotypic studies of ALS cases in ALS-SMA families. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Mar 1:1-6.