. 2009 Aug 3;132(10):2699–2711. doi: 10.1093/brain/awp198

Table 3.

Overview of HSAN types with corresponding gene/locus, inheritance pattern, cardinal phenotypic features and references to the Online Mendelian Inheritance in Man (OMIM) database and literature

Type	Gene	Locus	Inh	Clinical features	AAO	OMIM	Reference
HSAN I	SPTLC1	9q22.2	AD	Predominant loss of pain and temperature sensation, preservation of vibration sense, lancinating pain, variable distal motor involvement^a	Adult^a	162400	Bejaoui et al., 2001; Dawkins et al., 2001
HSAN IB	unknown	3p24-p22	AD	Predominant sensory neuropathy with cough and gastroesophageal reflux, rarely foot ulcerations	Adult	608088	Kok et al., 2003
CMT2B	RAB7	3q21.3	AD	Prominent distal motor involvement, sensory loss of all qualities, acro-mutilating complications	Adult	600882	Verhoeven et al., 2003
HSAN II	WNK1/HSN2	12p13.3	AR	Prominent sensory loss and mutilations in hands and feet, acropathy	Childhood	201300	Lafreniere et al., 2004
HSAN III (Riley–Day syndrome)	IKBKAP	9q31	AR	Familial dysautonomia, prominent autonomic disturbances and complications, absence of fungiform papillae of the tongue, alacrimia, excessive sweating	Congenital	223900	Slaugenhaupt et al., 2001
HSAN IV (CIPA)	NTRK1	1q21-22	AR	No or reduced response to painful stimuli, anhidrosis, episodic fever, mild mental retardation, skin and cornea lesions, joint deformities, hypogammaglobulinemia in one patient (this study)	Congenital	256800	Indo et al., 1996
HSAN V	NGFB (NTRK1 in rare cases)	1p13.1 (1q21-22)	AR	Congenital insensitivity to pain, severe loss of deep pain perception, painless fractures, joint deformities, normal intelligence	Congenital	608654	Einarsdottir et al., 2004 (Houlden et al., 2001)
HSAN with spastic paraplegia	CCT5	5p15-p14	AR	Prominent sensory neuropathy with sensory loss of all qualities, mutilating acropathy, spastic paraplegia.	Early childhood	256840	Bouhouche et al., 2006a

a Congenital onset in one patient with hypotonia, cataract, microcephaly and vocal cord paralysis (this study).

Inh = inheritance; AAO = age at onset; (updated from Auer-Grumbach et al., 2006 and Verhoeven et al., 2006).