Familial primary carpal tunnel syndrome with possible skipped generation

Şenel, Saliha; Ceylaner, Gülay; Yüksel, Deniz; Erkek, Nilgün; Karacan, Can Demir

doi:10.1007/s00431-009-1055-4

Cited by 6 publications

(3 citation statements)

References 12 publications

(12 reference statements)

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“…The family history of bilateral CTS is characterized by early onset of symptoms and no gender differences in distribution. It has not been possible to identify any gene that can directly be related to this phenomenon [30][31][32]. Despite initial enthusiasm for molecular markers, the genetic significance of any of the collagen gene polymorphism variants (including COL1A1 and COL5A1), matrix metalloproteinases, interleukins (IL1beta, IL-2, IL-6 and IL-6 receptor) growth factors (including vascular endothelial growth factor -VEGF), which may theoretically account for disturbance of the connective tissue architecture within the carpal tunnel, has not been proved [2,[33][34][35].…”

Section: Genetic Factorsmentioning

confidence: 99%

Bilateral carpal tunnel syndrome – A review

Dec

Żyluk

2018

Neurologia i Neurochirurgia Polska

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Carpal tunnel syndrome (CTS) is the most common upper extremity compressive neuropathy, with a prevalence of 3%-5% in the general population, and 6% in the group of females over the age of 40. It occurs about five times more common in females, with 2 peaks observed, in the 6th and 8th decades of life. Bilateral manifestation is more common than unilateral (60%), but significantly more often begins or is more strongly expressed in the dominant hand. Possible anatomical abnormalities underlying the development of CTS account for about 5% of cases. More and more scientific data confirm the significant role of central nervous system processes (including central sensitization) in the development of carpal tunnel syndrome, and changes in central nervous system body somatotopic representation, resulting from prolonged median nerve pathology, are described in consistence with the brain plasticity concept. This central involvement of bilateral CTS may explain that a proportion of patients following surgery for one hand experience improvement also in the non-operated hand.

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Section: Genetic Factorsmentioning

confidence: 99%

Bilateral carpal tunnel syndrome – A review

Dec

Żyluk

2018

Neurologia i Neurochirurgia Polska

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“…TTR and SH3TC2 mutations have been identified in amyloidosis and CMT patients with CTS, respectively 18,19 . A few nonsyndromic CTS pedigrees with autosomal-dominant inheritance have been reported, but no causal genes or loci were identified 16,17,[20][21][22][23][24][25] . Variants in some genes, including BGN, ACAN, COL5A1, and IL6R, have been associated with the risk of sporadic CTS [26][27][28] .…”

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confidence: 99%

Mutations in COMP cause familial carpal tunnel syndrome

Wang

Schäffer

et al. 2020

Nat Commun

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Carpal tunnel syndrome (CTS) is the most common peripheral nerve entrapment syndrome, affecting a large proportion of the general population. Genetic susceptibility has been implicated in CTS, but the causative genes remain elusive. Here, we report the identification of two mutations in cartilage oligomeric matrix protein (COMP) that segregate with CTS in two large families with or without multiple epiphyseal dysplasia (MED). Both mutations impair the secretion of COMP by tenocytes, but the mutation associated with MED also perturbs its secretion in chondrocytes. Further functional characterization of the CTS-specific mutation reveals similar histological and molecular changes of tendons/ligaments in patients' biopsies and the mouse models. The mutant COMP fails to oligomerize properly and is trapped in the ER, resulting in ER stress-induced unfolded protein response and cell death, leading to inflammation, progressive fibrosis and cell composition change in tendons/ligaments. The extracellular matrix (ECM) organization is also altered. Our studies uncover a previously unrecognized mechanism in CTS pathogenesis.

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“…A familial idiopathic carpal tunnel syndrome with an autosomal dominant pattern of inheritance has also been reported. 15–17 The high frequency of congenital scaphoid bone defects and thenar hypoplasia in children with early sensory carpal tunnel syndrome demonstrates that the severity grading accepted for adults is not applicable in many children. 4 Instead, assessment of disease severity should be based on nerve conduction study findings.…”

Section: Discussionmentioning

confidence: 99%

Carpal Tunnel Syndrome in Children

et al. 2013

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Carpal tunnel syndrome rarely occurs in children. We retrospectively analyzed clinical data of 11 patients aged 5-17 diagnosed with carpal tunnel syndrome at a single pediatric neuromuscular center. Nerve conduction studies were performed according to the American Association of Electrodiagnostic Medicine recommendations. Additional imaging tests of the wrist were performed in 10 patients. In our group of 11 children, carpal tunnel syndrome was idiopathic in only 1 case. In the remaining subjects, it was secondary to congenital bone anomaly (6), hypothyroidism (2), or myopathic contractures (1). In 1 case, metabolic workup revealed an underlying mucopolysaccharidosis. Our results confirm that idiopathic carpal tunnel syndrome is rare in children. Hand clumsiness and thenar hypoplasia rather than sensory complaints are the presenting symptoms. Whenever carpal tunnel syndrome is diagnosed in a child, a thorough differential diagnosis should be made because of the secondary nature of this disease in most pediatric patients.

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Familial primary carpal tunnel syndrome with possible skipped generation

Cited by 6 publications

References 12 publications

Bilateral carpal tunnel syndrome – A review

Bilateral carpal tunnel syndrome – A review

Mutations in COMP cause familial carpal tunnel syndrome

Carpal Tunnel Syndrome in Children

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