scholarly journals Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease

2020 ◽  
Vol 26 (3) ◽  
pp. 294-302
Author(s):  
Dimitrios Kasselimis ◽  
Georgia Karadima ◽  
Georgia Angelopoulou ◽  
Marianthi Breza ◽  
Dimitrios Tsolakopoulos ◽  
...  
Keyword(s):  
Cognitive Deficits ◽  
Hereditary Neuropathy ◽  
Connexin 32 ◽  
Neuropsychological Battery ◽  
Cns Involvement ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Males And Females ◽  
Reading Decoding ◽  
Tooth Disease

AbstractObjective:X-linked Charcot-Marie-Tooth disease (CMTX) is an hereditary neuropathy caused by mutations in GJB1 coding for connexin-32, found in Schwann cells, but also expressed in oligodendrocytes. Reports have identified CNS involvement in CMTX, but no systematic study of cognitive function has been published.Methods:We assessed 24 CMTX patients (13 males; 9GJB1 mutations) with a comprehensive neuropsychological battery, including tests of memory, language, and executive functions.Results:No differences in cognitive performance were observed between males and females. A case-by-case investigation revealed selective deficits in individual patients. One subgroup (29%) demonstrated executive abnormalities; and a non-overlapping subgroup (29%), prominent reading (decoding) abnormalities.Conclusions:The present data provide evidence for cognitive deficits in CMTX. Emerging neuropsychological patterns are also discussed.

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

1997 ◽  
Vol 100 (3-4) ◽  
pp. 391-397 ◽  
Author(s):  
K. Silander ◽  
P�ivi Meretoja ◽  
Helena Pihko ◽  
Vesa Juvonen ◽  
Jouni Issakainen ◽  
...  
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Pathogenesis of X-Linked Charcot-Marie-Tooth Disease: Differential Effects of Two Mutations in Connexin 32

2003 ◽  
Vol 23 (33) ◽  
pp. 10548-10558 ◽  
Author(s):  
Charles K. Abrams ◽  
Mona Freidin ◽  
Feliksas Bukauskas ◽  
Kostantin Dobrenis ◽  
Thaddeus A. Bargiello ◽  
...  
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Differential Effects ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A

2021 ◽  
Author(s):  
Helen AZEVEDO ◽  
Henrique COSTA ◽  
Eduardo DAVIDOVICH ◽  
Camila PUPE ◽  
Osvaldo José Moreira NASCIMENTO
Keyword(s):  
Neuropathic Pain ◽  
Clinical Evaluation ◽  
Disease Type ◽  
Moderate Intensity ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Clinical Criteria ◽  
Charcot Marie Tooth Disease ◽  
Sf 36 ◽  
Tooth Disease

ABSTRACT Background: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of hereditary neuropathy. Objective: To investigate the prevalence and characteristics of pain in patients with CMT1A. Methods: Nineteen patients with a diagnosis of CMT1A were evaluated between September 2018 and October 2019, and other causes of neuropathy were ruled out. The following tools were used for the pain assessment: neurological assessment, LANSS, DN4, clinical evaluation, VAS, CMTNS2 and SF-36. Statistical analysis was performed using prevalence analysis, t test, chi-square test and Spearman's rho. Results: The prevalence of pain was 84.2% in the sample of this study, with moderate intensity and nociceptive characteristics according to the LANSS scale (75%) and clinical evaluation (50%), but differing from DN4, which found neuropathic pain in the majority of the patients (56.2%). Mixed pain was also observed in 43.7% of the patients, according to clinical criteria. There was a statistically significant correlation between pain intensity and SF-36, thus demonstrating that the lower the pain was, the lower the impairment was, in all domains. Conclusion: Pain is a prevalent and important symptom in CMT1A, with moderate intensity and nociceptive characteristics according to two tools, but neuropathic pain is also present, and there may even be a mixed pattern of pain. The correlation of the pain with SF-36 suggests that pain relief could provide improvements to the quality of life of these individuals.

Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a

1993 ◽  
Vol 39 (9) ◽  
pp. 1845-1849 ◽  
Author(s):  
G W Hensels ◽  
E A Janssen ◽  
J E Hoogendijk ◽  
L J Valentijn ◽  
F Baas ◽  
...  
Keyword(s):  
Preliminary Investigation ◽  
Sensory Neuropathy ◽  
Disease Type ◽  
Chromosome 17 ◽  
Hereditary Neuropathy ◽  
Chromosomal Dna ◽  
Gene Encoding ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Abstract Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication on chromosome 17p11.2. The gene encoding the peripheral myelin protein PMP 22 (the critical gene in this subtype of CMT1) is located within this duplication. To detect this duplication in chromosomal DNA from individuals thought to have CMT1, we compared the hybridization signals of two DNA probes within this duplication (VAW412R3a and VAW409R3a) with the signal of a reference probe (E3.9). When duplication was present, the signals from the first two probes increased from 100% (for nonduplicated samples) to 145% and 142%, respectively. The day-to-day variance was 3.7% and 5.1%, respectively. We demonstrated this DNA duplication in 49 of 95 DNA samples from unrelated individuals thought to have CMT1. Moreover, because hereditary neuropathy with liability to pressure palsies (HNPP) is based on a DNA deletion in the same area of chromosome 17, this quantitative test may be useful in establishing the presence of HNPP. In a preliminary investigation, four unrelated patients with HNPP yielded test values of 63% and 54%, respectively, of those for nonduplicated samples (CV 19% and 18%, respectively; n = 4), suggesting a deletion in 17p11.2.

scholarly journals Genetic variation in Charcot–Marie–Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy

2020 ◽  
Vol 21 (12) ◽  
pp. 841-851
Author(s):  
Yongzhen Chen ◽  
Fang Fang ◽  
Kelley M Kidwell ◽  
Kiran Vangipuram ◽  
Lauren A Marcath ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Additive Model ◽  
Systemic Exposure ◽  
The Other ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Genetic Predictors ◽  
Paclitaxel Treatment ◽  
Tooth Disease

Aim: This study explored whether inherited variants in genes causing the hereditary neuropathy condition Charcot–Marie–Tooth disease are associated with sensitivity to paclitaxel-induced peripheral neuropathy (PN). Patients & methods: Hereditary neuropathy genes previously associated with risk of paclitaxel-induced PN were sequenced in paclitaxel-treated patients. Eight putative genetic predictors in five hereditary neuropathy genes ( ARHGEF10, SBF2, FGD4, FZD3 and NXN) were tested for association with PN sensitivity after accounting for systemic exposure and clinical variables. Results: FZD3 rs7833751, a proxy for rs7001034, decreased PN sensitivity (additive model, β = -0.41; 95% CI: -0.66 to -0.17; p = 0.0011). None of the other genetic predictors were associated with PN sensitivity. Conclusion: Our results support prior evidence that FZD3 rs7001034 is protective of PN and may be useful for individualizing paclitaxel treatment to prevent PN.

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