Genotype-phenotype associations in people with SPG7 mutations

Takeaway

  • Specific variants of SPG7 mutation were associated with age of onset and cerebellar atrophy in people with hereditary spastic paraplegia (HSP) and hereditary cerebellar ataxias (HCA).

Why this matters

  • Targeted genetic testing may be able to reduce costs associated with next-generation sequencing in people with SPG7 mutations.