1. Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family

Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family

Prof. Elif Ilgaz Aydinlar, MD 1 Prof. Arndt Rolfs, MD 2 Prof. Mustafa Serteser, MD 1 Prof. Yesim Parman, MD 3
1 Acıbadem University, Istanbul 2 University of Rostock 3 Istanbul University
May 01, 2014

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.