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. 2011 Aug 12;89(2):219–230. doi: 10.1016/j.ajhg.2011.06.013

Table 2.

HSAN Individuals Screened for KIF1A Mutations

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.