te Morsche RH

Radboud University Nijmegen

ORCID Profile OpenAlex Profile
4
EM Publications
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(841 citations, 11 total works)

Research Topics

Inflammatory mediators and NSAID effects (4) Helicobacter pylori-related gastroenterology studies (2) Genomics, phytochemicals, and oxidative stress (2) Glutathione Transferases and Polymorphisms (2) Pediatric Hepatobiliary Diseases and Treatments (2)

Erythromelalgia Publications

Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia.

Samuels ME, te Morsche RH, Lynch ME, Drenth JP
Molecular pain •

Hereditary erythermalgia is a painful and debilitating genetic disorder associated with mutations in voltage-gated sodium channel Nav1.7. We have previously reported a Canadian family segregating erythermalgia consistently with a dominant genetic etiology. Molecular analysis of the proband from the family detected two different missense mutations in Nav1.7. In the present study we have performed a long-term follow-up clinical study of disease progression in three affected family members. A more extensive molecular study has also been completed, analyzing the segregation of the two missense variants in the family. The two variants (P610T, L858F) segregate independently with respect to clinical presentation. Detailed genotype/phenotype correlation suggests that one of the two variants (L858F) is causal for erythermalgia. The second variant (P610T) may modify the phenotype in the proband. This is the second reported study of potential compound heterozygosity for coding polymorphisms in Nav1.7, the first being in a patient with paroxysmal extreme pain disorder.

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[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene].

Drenth JP, te Morsche RH, Michiels JJ
Nederlands tijdschrift voor geneeskunde •

Primary erythermalgia is a rare autosomal dominant inherited disorder characterized by recurrent attacks of red, warm and painful burning extremities. The gene involved in primary erythermalgia, SCN9A, encodes for a voltage dependent sodium channel alpha subunit (NaV1.7). NaV1.7 is located in dorsal root ganglions and in nociceptive peripheral neurons. It has been hypothesized that mutations lead to a gain of function and hyperexcitability of peripheral sensory neurons contributing to symptoms in primary erythermalgia.

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Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

Michiels JJ, te Morsche RH, Jansen JB, Drenth JP
Archives of neurology •

Autosomal dominant primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet. To describe the phenotypes and molecular data of a 10-member family with 5 symptomatic living patients with erythermalgia. The clinical phenotype of this family was featured by episodic or continuous symmetrical red swelling, irritating warmth, and burning pain of feet and lower legs provoked or aggravated by warmth and exercise, and relief was always obtained by application of cold, such as putting feet in (ice-) cold water. The symptoms in this family were only partially controlled by analgesics and sedatives. All affected family members were heterozygous for a novel mutation (S241T) of the voltage-gated sodium channel alpha subunit Nav1.7. Primary erythermalgia may be a neuropathic disorder of the small peripheral sensory and sympathetic neurons, and may be caused by hyperexcitability of Nav1.7.

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SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

Drenth JP, te Morsche RH, Guillet G, Taieb A, Kirby RL , et al.
The Journal of investigative dermatology •

Primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm and painful hands, and/or feet. We previously localized the gene for primary erythermalgia to a 7.94 cM region on chromosome 2q. Recently, Yang et al identified two missense mutations of the sodium channel alpha subunit SCN9A in patients with erythermalgia. The presence of voltage-gated sodium channels in sensory neurons is thought to play a crucial role in several chronic painful neuropathies. We examined four different families and two sporadic cases and detected missense sequence variants in SCN9A to be present in primary erythermalgia patients. A total of five of six mutations were located in highly conserved regions. One family with autosomal dominantly inherited erythermalgia was double heterozygous for two separate SCN9A mutations. These data establish primary erythermalgia as a neuropathic disorder and offers hope for treatment of this incapacitating painful disorder.

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