Polymorphisms causing complex syndromes with a loss of pain perception

Several hereditary maladies with complete loss of pain sensitivity have been genetically defined. Although the molecular mechanisms differ among them, all syndromes are characterized by an interruption of transmission or processing at key points of the nociceptive system (for full details, see the ‘Online Mendelian Inheritance in Man’ database (OMIM): http://www.ncbi.nlm.nih.gov/ sites/entrez?db=omim) (Oertel and Lotsch 2008). This includes (1) the channelopathy associated insensitivity to pain, which is based on loss-of-function mutations of the alpha-subunit of the voltage-gated sodium channel, Na(v)1.7 (Cox et al. 2006; Goldberg et al. 2007), (2) the Hereditary sensory and autonomic neuropathy type I (HSAN-I), caused by mutations in the serine palmitoyltransferase, long chain base subunit 1 gene (Bejaoui et al. 2001; Dawkins et al. 2001; Verhoeven et al. 2006), (3) the HSAN-II, based on mutations in the hereditary sensory neuropathy, type II (Lafreniere et al. 2004; Riviere et al. 2004; Cho et al. 2006; Roddier et al. 2005), (4) the HSAN-III due to mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein gene (Slaugenhaupt and Gusella 2002; Anderson et al. 2001; Leyne et al. 2003), (5) the HSAN-IV, also called congenital insensitivity to pain with anhidrosis (CIPA) and based on mutations in the neurotrophic tyrosine kinase, receptor, type 1 gene (Indo et al. 1996; Miura et al. 2000), and (6) the HSAN-V caused by mutations in the nerve growth factor, beta polypeptide gene (Einarsdottir et al. 2004). All these syndromes are very rare affecting a few families. Therefore, their specific association with back pain has not been shown but it is reasonable to assume that patients with these syndromes will not develop back pain.

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