Mutation in FAM134B Causing Hereditary Sensory Neuropathy with Spasticity in a Turkish Family

doi: 10.1002/mus.24145

Hereditary sensory and autonomic neuropathy (HSAN) type 2 is a rare autosomal recessive disease that was first described by Ota et al in 1973 (1). We report the clinical and pathological findings of 2 siblings with HSAN type 2 due to a homozygous mutation in FAM134B.