Table 5 Clinical presentation of different HSAN types and NGFB heterozygous patients
HSAN typeAge onsetMutationOnset symptomInsensitivity to painMental retardationTemperature sensationHidrosisAutonomic symptomsFracturesMultiple infection or ulcerAuto amputationCharcot jointsNerve biopsyCTSReference
HSAN IAdultSPTLC1U/SPYNNY/NNYYYAα ↓ Aδ ↓↓ C ↓↓?Bejaoui,20 Houlden21
HSAN IIChildhoodHSNIISPYNY/NNYYYAα N Aδ ↓↓ C N?Lafreniere,22 Auer-Grumback23
HSAN IIICongenitalIKBKAPAYY/NYNY/NNY/NAα ↓↓ Aδ N C ↓↓?Auer-Grumback,23 Slaugenhaupt24
HSAN IV TRKACongenitalTRKAA/FYY↓↓YYYYYAα N Aδ ↓↓ C ↓NMardy,6 Shatzky25
HSAN V NGFBChildhoodNGFBAR/FYN↓/NNY/NYYNYAα N Aδ ↓ C ↓↓NEinarsdottir,8 Minde9
NGFB heterozygousAdultNGFBARNN↓/NNY/NNNNYAα N Aδ ↓ C ↓Y
  • A, autonomic symptom; AR, arthropathy; CTS, carpal tunnel syndrome; F, fractures; HSAN, hereditary sensory and autonomic neuropathies; N, no or normal; SP, sensory neuropathy; U, ulcus skin; Y, yes.