Table 2.
Type | Inheritance | Unrelated Individuals |
---|---|---|
HSANI/HSANIB/CMT2B | AD | 28 |
HSANII | AR | 23 |
HSANIII | AR | 2 |
HSANIV | AR | 4 |
HSANV | AR | 1 |
HSAN with spastic paraplegia and/or pyramidal-tract signs | AR | 7 |
Unspecified | unknown | 47 |
Total | 112 |
Inclusion criteria: unrelated patients with clinical features belonging to the clinical spectrum of ulcero-mutilating sensory neuropathies. 62 patients were negative for mutations in the HSN2 exon of WNK1 and for mutations in SPTLC1, RAB7, WNK1, NTRK1, NGFB, and CCT5.17 Abbreviations are as follows: CMT2B, Charcot-Marie-Tooth neuropathy type 2B; AD, autosomal dominant; AR, autosomal recessive.