A summary of the neuropathic pain disorders and the key diagnostic criteria used to classify the study participants enrolled
| NPD . | Diagnostic criteria . | Associated phenotypes . | Likely inheritance . | Known gene (OMIM #) . | PMID reference . |
|---|---|---|---|---|---|
| Congenital insensitivity to pain (including hereditary sensory and autonomic neuropathy type IV, V, VII) | Inability to perceive painful stimuli Other somatosensory modalities may be impaired but the predominant clinical presentation is loss of pain sensibility | Anosmia Autonomic dysfunction Anhidrosis Intellectual impairment | AD, AR | SCN9A (243000), NGF (608654), NTRK1 (256800), SCN11A (615548), PRDM12 (616488), MPV17 (256810), CLTCL1 (601273) | 17167479, 17470132, 17597096, 23596073, 19304393, 14976160, 8696348, 24036948, 26005867, 185990, 26068709 |
| Hereditary sensory and autonomic neuropathy type I, II, III | Progressive neuropathies where the presenting or predominant feature is altered sensory function | Autonomic features and motor nerve involvement | AD, AR, X-linked | SPLTLC1 (162400), SPTLC2 (605713), WNK1 (201300), RAB7 (600882), IKBKAP (223900), FAM134B (613115), KIF1A (614213), ATL1 (613708), ATL3 (615632), CCT5 (256840) | 11242114, 20920666, 15060842, 12545426, 8102296, 19838196, 21820098, 21194679, 24459106, 16399879 |
| Erythromelalgia | Pain and erythema of the extremities which is exacerbated by warming and relieved by cooling. Initially episodic but may become persistent | Onset by age 20 | AD | SCN9A (133020) | 14985375 |
| Familial episodic pain syndrome | Severe episodic pain usually localized to the trunk and limbs with no structural cause. Triggers include cold environment, exercise and fasting | Onset usually in childhood Possible family history | AD | TRPA1 (615040), SCN11A (615552) | 20547126, 24207120 |
| Small fibre neuropathy | Probable—symptoms in hands and feet consistent with small fibre dysfunction (pain and altered temperature sensibility), clinical signs of small fibre damage (reduced pinprick sensitivity and ability to discriminate warm/cool) and normal nerve conduction studies Definite—symptoms in hands and feet, clinical signs of small fibre damage, normal nerve conduction studies, and altered intra-epidermal nerve fibre density at the ankle and/or abnormal quantitative sensory testing of thermal thresholds at the foot | Autonomic features | AD | SCN9A (133020), SCN10A (615551), SCN11A (615552) | 21698661, 23115331, 24207120 |
| Post-traumatic neuropathy | Traumatic nerve injury with clinical evidence of nerve injury in the neuroanatomical distribution of neuropathic pain | N/A | N/A | ||
| Neuropathic pain NOS | Pain with a distinct neuroanatomically plausible distribution; however, no evidence of nerve injury found on clinical examination or specialized investigations | N/A | N/A |
| NPD . | Diagnostic criteria . | Associated phenotypes . | Likely inheritance . | Known gene (OMIM #) . | PMID reference . |
|---|---|---|---|---|---|
| Congenital insensitivity to pain (including hereditary sensory and autonomic neuropathy type IV, V, VII) | Inability to perceive painful stimuli Other somatosensory modalities may be impaired but the predominant clinical presentation is loss of pain sensibility | Anosmia Autonomic dysfunction Anhidrosis Intellectual impairment | AD, AR | SCN9A (243000), NGF (608654), NTRK1 (256800), SCN11A (615548), PRDM12 (616488), MPV17 (256810), CLTCL1 (601273) | 17167479, 17470132, 17597096, 23596073, 19304393, 14976160, 8696348, 24036948, 26005867, 185990, 26068709 |
| Hereditary sensory and autonomic neuropathy type I, II, III | Progressive neuropathies where the presenting or predominant feature is altered sensory function | Autonomic features and motor nerve involvement | AD, AR, X-linked | SPLTLC1 (162400), SPTLC2 (605713), WNK1 (201300), RAB7 (600882), IKBKAP (223900), FAM134B (613115), KIF1A (614213), ATL1 (613708), ATL3 (615632), CCT5 (256840) | 11242114, 20920666, 15060842, 12545426, 8102296, 19838196, 21820098, 21194679, 24459106, 16399879 |
| Erythromelalgia | Pain and erythema of the extremities which is exacerbated by warming and relieved by cooling. Initially episodic but may become persistent | Onset by age 20 | AD | SCN9A (133020) | 14985375 |
| Familial episodic pain syndrome | Severe episodic pain usually localized to the trunk and limbs with no structural cause. Triggers include cold environment, exercise and fasting | Onset usually in childhood Possible family history | AD | TRPA1 (615040), SCN11A (615552) | 20547126, 24207120 |
| Small fibre neuropathy | Probable—symptoms in hands and feet consistent with small fibre dysfunction (pain and altered temperature sensibility), clinical signs of small fibre damage (reduced pinprick sensitivity and ability to discriminate warm/cool) and normal nerve conduction studies Definite—symptoms in hands and feet, clinical signs of small fibre damage, normal nerve conduction studies, and altered intra-epidermal nerve fibre density at the ankle and/or abnormal quantitative sensory testing of thermal thresholds at the foot | Autonomic features | AD | SCN9A (133020), SCN10A (615551), SCN11A (615552) | 21698661, 23115331, 24207120 |
| Post-traumatic neuropathy | Traumatic nerve injury with clinical evidence of nerve injury in the neuroanatomical distribution of neuropathic pain | N/A | N/A | ||
| Neuropathic pain NOS | Pain with a distinct neuroanatomically plausible distribution; however, no evidence of nerve injury found on clinical examination or specialized investigations | N/A | N/A |
Pattern of inherence for the Mendelian inherited pain disorders, genes (including the OMIM reference) and important PMID references.
NOS, not otherwise specified; NPD, neuropathic pain disorder.
A summary of the neuropathic pain disorders and the key diagnostic criteria used to classify the study participants enrolled
| NPD . | Diagnostic criteria . | Associated phenotypes . | Likely inheritance . | Known gene (OMIM #) . | PMID reference . |
|---|---|---|---|---|---|
| Congenital insensitivity to pain (including hereditary sensory and autonomic neuropathy type IV, V, VII) | Inability to perceive painful stimuli Other somatosensory modalities may be impaired but the predominant clinical presentation is loss of pain sensibility | Anosmia Autonomic dysfunction Anhidrosis Intellectual impairment | AD, AR | SCN9A (243000), NGF (608654), NTRK1 (256800), SCN11A (615548), PRDM12 (616488), MPV17 (256810), CLTCL1 (601273) | 17167479, 17470132, 17597096, 23596073, 19304393, 14976160, 8696348, 24036948, 26005867, 185990, 26068709 |
| Hereditary sensory and autonomic neuropathy type I, II, III | Progressive neuropathies where the presenting or predominant feature is altered sensory function | Autonomic features and motor nerve involvement | AD, AR, X-linked | SPLTLC1 (162400), SPTLC2 (605713), WNK1 (201300), RAB7 (600882), IKBKAP (223900), FAM134B (613115), KIF1A (614213), ATL1 (613708), ATL3 (615632), CCT5 (256840) | 11242114, 20920666, 15060842, 12545426, 8102296, 19838196, 21820098, 21194679, 24459106, 16399879 |
| Erythromelalgia | Pain and erythema of the extremities which is exacerbated by warming and relieved by cooling. Initially episodic but may become persistent | Onset by age 20 | AD | SCN9A (133020) | 14985375 |
| Familial episodic pain syndrome | Severe episodic pain usually localized to the trunk and limbs with no structural cause. Triggers include cold environment, exercise and fasting | Onset usually in childhood Possible family history | AD | TRPA1 (615040), SCN11A (615552) | 20547126, 24207120 |
| Small fibre neuropathy | Probable—symptoms in hands and feet consistent with small fibre dysfunction (pain and altered temperature sensibility), clinical signs of small fibre damage (reduced pinprick sensitivity and ability to discriminate warm/cool) and normal nerve conduction studies Definite—symptoms in hands and feet, clinical signs of small fibre damage, normal nerve conduction studies, and altered intra-epidermal nerve fibre density at the ankle and/or abnormal quantitative sensory testing of thermal thresholds at the foot | Autonomic features | AD | SCN9A (133020), SCN10A (615551), SCN11A (615552) | 21698661, 23115331, 24207120 |
| Post-traumatic neuropathy | Traumatic nerve injury with clinical evidence of nerve injury in the neuroanatomical distribution of neuropathic pain | N/A | N/A | ||
| Neuropathic pain NOS | Pain with a distinct neuroanatomically plausible distribution; however, no evidence of nerve injury found on clinical examination or specialized investigations | N/A | N/A |
| NPD . | Diagnostic criteria . | Associated phenotypes . | Likely inheritance . | Known gene (OMIM #) . | PMID reference . |
|---|---|---|---|---|---|
| Congenital insensitivity to pain (including hereditary sensory and autonomic neuropathy type IV, V, VII) | Inability to perceive painful stimuli Other somatosensory modalities may be impaired but the predominant clinical presentation is loss of pain sensibility | Anosmia Autonomic dysfunction Anhidrosis Intellectual impairment | AD, AR | SCN9A (243000), NGF (608654), NTRK1 (256800), SCN11A (615548), PRDM12 (616488), MPV17 (256810), CLTCL1 (601273) | 17167479, 17470132, 17597096, 23596073, 19304393, 14976160, 8696348, 24036948, 26005867, 185990, 26068709 |
| Hereditary sensory and autonomic neuropathy type I, II, III | Progressive neuropathies where the presenting or predominant feature is altered sensory function | Autonomic features and motor nerve involvement | AD, AR, X-linked | SPLTLC1 (162400), SPTLC2 (605713), WNK1 (201300), RAB7 (600882), IKBKAP (223900), FAM134B (613115), KIF1A (614213), ATL1 (613708), ATL3 (615632), CCT5 (256840) | 11242114, 20920666, 15060842, 12545426, 8102296, 19838196, 21820098, 21194679, 24459106, 16399879 |
| Erythromelalgia | Pain and erythema of the extremities which is exacerbated by warming and relieved by cooling. Initially episodic but may become persistent | Onset by age 20 | AD | SCN9A (133020) | 14985375 |
| Familial episodic pain syndrome | Severe episodic pain usually localized to the trunk and limbs with no structural cause. Triggers include cold environment, exercise and fasting | Onset usually in childhood Possible family history | AD | TRPA1 (615040), SCN11A (615552) | 20547126, 24207120 |
| Small fibre neuropathy | Probable—symptoms in hands and feet consistent with small fibre dysfunction (pain and altered temperature sensibility), clinical signs of small fibre damage (reduced pinprick sensitivity and ability to discriminate warm/cool) and normal nerve conduction studies Definite—symptoms in hands and feet, clinical signs of small fibre damage, normal nerve conduction studies, and altered intra-epidermal nerve fibre density at the ankle and/or abnormal quantitative sensory testing of thermal thresholds at the foot | Autonomic features | AD | SCN9A (133020), SCN10A (615551), SCN11A (615552) | 21698661, 23115331, 24207120 |
| Post-traumatic neuropathy | Traumatic nerve injury with clinical evidence of nerve injury in the neuroanatomical distribution of neuropathic pain | N/A | N/A | ||
| Neuropathic pain NOS | Pain with a distinct neuroanatomically plausible distribution; however, no evidence of nerve injury found on clinical examination or specialized investigations | N/A | N/A |
Pattern of inherence for the Mendelian inherited pain disorders, genes (including the OMIM reference) and important PMID references.
NOS, not otherwise specified; NPD, neuropathic pain disorder.
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