Mutation in FAM134B Causing Hereditary Sensory Neuropathy with Spasticity in a Turkish Family
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.
- Prof. Elif Ilgaz Aydinlar , MD
- Prof. Arndt Rolfs , MD
- Prof. Mustafa Serteser , MD
- Prof. Yesim Parman , MD