Familial Carpal Tunnel Syndrome Research Articles

Transthyretin Gene Mutation Associated with Familial Carpal Tunnel Syndrome in Sample of Iraqi Patients.

Background:Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy in upper limbs. It affects women more frequently than men. CTS can be caused by many different systemic diseases and local mechanical conditions and it had signs and symptoms due to compression of median nerve at the carpal tunnel in wrist.Objective:The present study aims to study whether Transthyretin (TTR) gene polymorphisms have association with the development of FCTS.Methods:Sixty-four patients suffering from CTS were enrolled in this controlled cross sectional study. For all, nerve conduction study was performed to prove the diagnosis of CTS and to classify its severity. The mean age of all patients was 44.9±7.8 years, 89.1 % were female, 37.5 % had mild type CTS and 40.7 % had right side CTS. 3 mL of peripheral blood was collected from all patients which is a labeled (EDTA) tube at -20 C° for DNA extraction to identify a particular SNP (rs28933979; 148G/A; V50M) that locates at position chr18:31592974 on the exon-2 region which is reported to be associated to the Carpal Tunnel Syndrome. Exon-2 of TTR gene was amplified using the PCR technique and subjected to be tested for presence of SNP by Restriction Fragment Length Polymorphism (RFLP) assay.Results and Conclusion:According to genetic variation, the study cannot discover any TTR gene polymorphism that back to FCTS.

Mutations in COMP cause familial carpal tunnel syndrome

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.

Familial occurrence of carpal tunnel syndrome.

The objective of this study was to investigate the incidence of familial carpal tunnel syndrome in patients admitted to the authors' institution for carpal tunnel release. Questionnaires completed by 120 patients: 92 women (77%) and 28 men (23%) at a mean age of 56 years at their baseline clinical examination were reviewed. Familial occurrence of the disease was noted in 21 patients (17%): 16 women and five men. Three family members were affected in three patients, two relatives in eight patients, and one relative in 10 patients, giving a total of 35 affected relatives. The patients' sisters (n = 16) were the most commonly involved, followed by mothers (n = 12), daughters (n = 2), brothers (n = 2), grandmothers (n = 2) and an aunt (n = 1). Bilateral manifestation of the disease was noted in 19 patients (90%) and in 31 (88%) of their affected relatives. The results suggest that carpal tunnel syndrome shows a moderate tendency to familial occurrence and, if so, it usually manifests bilaterally.

Primary Familial Carpal Tunnel Syndrome with Long-term Followup: A Study of Two Families and Review of the Literature

Background: Familial carpal tunnel syndrome is a rare hereditary disorder characterized by early onset bilateral carpal tunnel syndrome. A lack of long-term outcome data exists for patients afflicted by this condition. This study examines the long-term subjective outcomes of patients managed with open carpal tunnel release for the diagnosis of familial carpal tunnel syndrome. Methods and findings: Three patients were diagnosed with familial carpal tunnel syndrome: a 13 y old girl whose maternal family has three consecutive generations of carpal tunnel syndrome, and a 16 y old boy and his 47 y old father whose family has four consecutive generations of carpal tunnel syndrome. All patients completed the Boston Carpal Tunnel Questionnaire at an average of 13.5 y following their initial surgical treatment. Responses revealed onset of new symptoms in the 13 y old girl’s contralateral wrist and symptom recurrence in the 16 y old boy and his 47 y old father. Following carpal tunnel release, the 13 y old girl is now asymptomatic. The 16 y old boy and his father, despite carpal tunnel release, still suffer from moderate and mild functional impairment. The conclusions of our study, along with those of other studies that detail the nature of this syndrome, are limited by the small number of familial carpal tunnel syndrome patients. Conclusion: In cases of early onset familial carpal tunnel syndrome, carpal tunnel release may prove only partially effective in resolving symptoms. Patients should be counseled that recurrent symptoms may develop despite successful initial carpal tunnel release.

Familial primary carpal tunnel syndrome with possible skipped generation

Carpal tunnel syndrome, an entrapment neuropathy of the median nerve, is rarely seen in childhood. Familial carpal tunnel syndrome, an even more exceptional entity, is frequently associated with inherited systemic disorders. Rarely it can be presented as a primary familial form with Mendelian autosomal dominant inheritance. We report the occurrence of carpal tunnel syndrome in two generations of a family in which the index case was a 6-year-old boy with bilateral hand pain and paresthesias. Our report demonstrates an interesting inheritance pattern of carpal tunnel syndrome in a family transmitted by an autosomal dominant gene with variable expressivity and reduced penetrance. To our knowledge, it is the first report of familial bilateral carpal tunnel syndrome in a family with possible skipped generation.

Familial carpal tunnel syndrome: further evidence for a genetic contribution

Familial carpal tunnel syndrome: further evidence for a genetic contribution

Carpal tunnel syndrome in children

Carpal tunnel syndrome is a condition rarely encountered in infants. We describe five patients with nine involved hands. One was reported earlier. In three cases the cause of carpal tunnel syndrome is a storage disease: one girl with mucolipidosis type III and a boy and a girl with mucopolysaccharidosis type I. The fourth case is a girl presenting with unilateral macrodactyly of the right third and fourth digits. The last case involves a boy with familial carpal tunnel syndrome. We briefly discuss these patients and review the literature since 1989.

Familial carpal tunnel syndrome: a report of a Finnish family.

The existence of familial carpal tunnel syndrome (FCTS) as a separate autonomic entity has been discussed during the last few years. In order to contribute with more data to the literature, we report here the results of clinical. electrophysiological, pathological and radiological studies performed in 5 patients belonging to the same Finnish pedigree. The disease appeared usually before the second decade with numbness and pain on the I--III digits. In most patients symptoms were unilateral but within 2 years they became bilateral. In all patients typical electrophysiological features of median nerve entrapment have been recorded. X-rays of the wrist showed narrow carpal tunnel in all patients. In all patients the possibility of having HNPP as well as familial amyloidosis has been excluded by molecular genetic and pathological studies. All patients underwent surgery and at postoperative stage symptoms were relieved or completely disappeared. Our study supports the theory that FCTS exists as a separate autonomic entity, therefore it is important in front of a sporadic case to investigate the family occurrence of CTS.

Is there a familial carpal tunnel syndrome? An evaluation and literature review.

We review the reports of families proposed to have the familial carpal tunnel syndrome (FCTS). The demographic features of sporadic carpal tunnel syndrome (CTS) differ from FCTS, where an earlier onset and increased bilateral involvement is seen. We also identify seven new potential FCTS pedigrees on the basis of their having four or more members with symptoms suggesting CTS. In all but two pedigrees an explanation other than FCTS was found. We conclude that the FCTS is a rare, but genetically distinct disorder.

Is there a familial carpal tunnel syndrome? An evaluation and literature review

We review the reports of families proposed to have the familial carpal tunnel syndrome (FCTS). The demographic features of sporadic carpal tunnel syndrome (CTS) differ from FCTS, where an earlier onset and increased bilateral involvement is seen. We also identify seven new potential FCTS pedigrees on the basis of their having four or more members with symptoms suggesting CTS. In all but two pedigrees an explanation other than FCTS was found. We conclude that the FCTS is a rare, but genetically distinct disorder.

The 17p11.2 locus in hereditary neuropathy with liability to pressure palsies, in juvenile and familial carpal tunnel syndrome and in hereditary neuralgic amyotrophy*

The presence of deletions at the CMT‐1a locus containing the gene encoding the myelin protein, PMP‐22 on chromosome 17p11.2 was assessed in patients with hereditary neuropathy with liability to pressure palsies (HNPP), with hereditary neuralgic amyotrophy and with hereditary carpal tunnel syndrome. Affected members in all families with HNPP, except in one, had a deletion, in one of them a partial one. None of the non‐affected relatives, none of the members of the other three groups and none of the controls showed a deletion. These data confirm that the majority of patients with HNPP have a deletion at the PMP‐22 gene locus. They do not suggest, however, that such a deletion accounts for a predisposition to the development of hereditary neuralgic amyotrophy or of carpal tunnel syndrome.

Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant

We studied two patients from a Japanese family with carpal tunnel syndrome (CTS). The biopsy samples obtained during CTS surgical release revealed deposits of amyloid that stained with antihuman transthyretin (TTR) antiserum. Single-strand conformation polymorphism analysis and sequence analysis of polymerase chain reaction (PCR)-amplified exons of the proband's TTR gene revealed a point mutation resulting in a substitution of histidine for tyrosine at position 114. The mutation was confirmed by PCR-primer-induced restriction analysis. Our findings account for clinical heterogeneity of TTR-derived amyloidosis, and suggest the importance of substitution itself for deposits of amyloid in CTS.

Familial carpal-tunnel syndrome presenting in childhood. Report of two cases.

Familial carpal-tunnel syndrome presenting in childhood. Report of two cases.

Familial carpal tunnel syndrome with onset in childhood.

Within three generations of one family four patients were found to have the carpal tunnel syndrome. In father and son, symptoms commenced in the first decade, and in both patients the median nerves were found to be constricted under the transverse carpal ligaments. The only other operative finding was considerably thickening of the transverse carpal ligaments in the father. Thickening of the transverse carpal ligaments is unusual in patients with the carpal tunnel syndrome but is a common finding in the relatively few patients with familial carpel tunnel syndrome so far described in the literature. It is suggested that thickening of the ligaments may constitute a familial disorder that can give rise to the carpal tunnel syndrome in childhood or later in life.