Table 3

Classification of the hereditary sensory and autonomic neuropathies

TypeInheritanceGene/locusSpecific phenotype
AD, autosomal dominant; AR, autosomal recessive; SPLTC1, serine palmitoyltransferase, long chain base subunit-1; HSN2, HSN2 gene; IKBKAP, IκB kinase complex-associated protein; NTRK1, neurotrophic tyrosine kinase, receptor type 1; NGFβ, nerve growth factor beta polypeptide.
HSAN IADSPTLC1Mainly sensory, sensory complications, pain, occasionally motor early, males more severe
CMT2BADRAB7Sensorimotor, sensory complications, no pain
HSAN 1AD3p24-p22Sensory, cough, gastroesophageal reflux
HSAN IIARHSN2Severe sensory complications, mutilations, onset in first two decades
HSAN IIIARIKBKAPFamilial dysautonomia (Riley-Day syndrome)
Prominent autonomic, absent fungiform papillae of the tongue
HSAN IVARNTRK1Congenital insensitivity to pain with anhidrosis, severe sensory, mental retardation, unmyelinated fibres mainly affected
HSAN VARNTRK1Congenital insensitivity to pain with mild anhidrosis, no mental retardation, small myelinated fibres mainly affected
HSAN VARNGFβCongenital insensitivity to pain, minimal autonomic, no mental retardation, mainly unmyelinated fibres affected