Pain in Charcot-Marie-Tooth disease: an update

Azevedo, Helen; Pupe, Camila; Pereira, Rouse Barbosa; Nascimento, Osvaldo J. M.

doi:10.1590/0004-282x20180021

Cited by 27 publications

(27 citation statements)

References 11 publications

(40 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…CMT disorders are a group of hereditary motor and sensory polyneuropathies that are genetically and clinical heterogeneous ( Benedetti et al, 2010 ; Bird, 2020 ). The CMT phenotype is typically characterized by a length-dependent motor and sensory neuropathy with distal weakness, sensory loss, foot deformities, such as pes cavus and hammertoe, and sometimes pain ( Pareyson et al, 2017 ; Azevedo et al, 2018 ). Roughly one-third of CMT2 patients show symptoms of neuropathic pain ( Azevedo et al, 2018 ).…”

Section: Hdac6 and Neuropathic Pain Development In Peripheral Neuropathic Diseasesmentioning

confidence: 99%

“…The CMT phenotype is typically characterized by a length-dependent motor and sensory neuropathy with distal weakness, sensory loss, foot deformities, such as pes cavus and hammertoe, and sometimes pain ( Pareyson et al, 2017 ; Azevedo et al, 2018 ). Roughly one-third of CMT2 patients show symptoms of neuropathic pain ( Azevedo et al, 2018 ). The traditional classification of CMT disorders is based on nerve conduction velocity (NCV) and mode of inheritance ( Benedetti et al, 2010 ; Fridman et al, 2015 ).…”

Section: Hdac6 and Neuropathic Pain Development In Peripheral Neuropathic Diseasesmentioning

confidence: 99%

See 1 more Smart Citation

HDAC6: A Key Link Between Mitochondria and Development of Peripheral Neuropathy

English

Barton

2021

Front. Mol. Neurosci.

View full text Add to dashboard Cite

Peripheral neuropathy, which is the result of nerve damage from lesions or disease, continues to be a major health concern due to the common manifestation of neuropathic pain. Most investigations into the development of peripheral neuropathy focus on key players such as voltage-gated ion channels or glutamate receptors. However, emerging evidence points to mitochondrial dysfunction as a major player in the development of peripheral neuropathy and resulting neuropathic pain. Mitochondrial dysfunction in neuropathy includes altered mitochondrial transport, mitochondrial metabolism, as well as mitochondrial dynamics. The mechanisms that lead to mitochondrial dysfunction in peripheral neuropathy are poorly understood, however, the Class IIb histone deacetylase (HDAC6), may play an important role in the process. HDAC6 is a key regulator in multiple mechanisms of mitochondrial dynamics and may contribute to mitochondrial dysregulation in peripheral neuropathy. Accumulating evidence shows that HDAC6 inhibition is strongly associated with alleviating peripheral neuropathy and neuropathic pain, as well as mitochondrial dysfunction, in in vivo and in vitro models of peripheral neuropathy. Thus, HDAC6 inhibitors are being investigated as potential therapies for multiple peripheral neuropathic disorders. Here, we review emerging studies and integrate recent advances in understanding the unique connection between peripheral neuropathy and mitochondrial dysfunction through HDAC6-mediated interactions.

show abstract

Section: Hdac6 and Neuropathic Pain Development In Peripheral Neuropathic Diseasesmentioning

confidence: 99%

Section: Hdac6 and Neuropathic Pain Development In Peripheral Neuropathic Diseasesmentioning

confidence: 99%

HDAC6: A Key Link Between Mitochondria and Development of Peripheral Neuropathy

English

Barton

2021

Front. Mol. Neurosci.

View full text Add to dashboard Cite

show abstract

“…In the sample, pGCI median score was 5, with a distribution ranging between 1 and 7, as shown in Figure 3. Noteworthy, nearly 80% of the sample patients either improved 4,5 or displayed a considerable improvement. 6,7 Six out of seven patients with pGIC <3 had a WHS score ≥4.…”

Section: Samplementioning

confidence: 97%

“…2,3 CMT also includes a sensorial (proprioceptive) deficit of the lower and upper limbs and symptoms such as cramps, asthenia, and neuropathic pain. 4 The disease is degenerative and usually shows a slow progression, involving the hands and the respiratory functions, consequently decreasing the patient's quality of life significantly. 5,6 Pharmacological treatments are under investigations; however, as of today, only the rehabilitative management of the disease seems to be of any real use.…”

Section: Introductionmentioning

confidence: 99%

Long‐term walking ability and patient satisfaction after lower limb functional surgery in patients affected by Charcot‐Marie‐Tooth disease: A retrospective study

Carantini¹,

Merlo²,

Esposito³

et al. 2020

J Peripheral Nervous Sys

View full text Add to dashboard Cite

Structural foot deformities consequent to Charcot Marie Tooth (CMT) can be treated by functional surgery (FS). This study aims to evaluate both long‐term walking ability and patients' satisfaction in CMT subjects who underwent FS during their lifetime. We conducted a retrospective observational study. Age, sex, CMT type, comprehensive surgical history, current walking ability assessed by the Walking Handicap Scale (WHS) and patients' global impression of change (pGIC) were retrieved from a custom database managed at our institution. WHS and pGIC were assessed between mid‐2018 and mid‐2019. Data from 79 patients were screened and 63 were included, 35W‐28M, mean age 42 (15), with demyelinating (75%), axonal (20%), and other types (5%) of CMT, who underwent FS between 1967 and 2018. FS evolved significantly over the years from bone‐related procedures (e.g., arthrodesis) to both bone and soft tissues‐related procedures. The re‐intervention rate decreased from 70% before 2000 to 32% in the last decade. Complications arose in five cases. FS was mainly performed on adults (73%). WHS was ≥ 5 in three‐quarters of the sample (range 1‐6) and was significantly affected by age groups in patients with demyelinating CMT (n=47, p<0.01, non‐parametric ANOVA). Nearly 80% of patients were satisfied with FS (pGIC ≥ 4). In conclusion, CMT subjects who underwent FS surgery maintained a high gait efficiency in the long‐term period, with middle to high levels of satisfaction in the majority of the cases. This confirms the validity of FS in the management of acquired foot deformities in CMT patients.

show abstract

“…Sensory symptoms, and in particular pain, are relevant in relation to quality of life and can represent an important issue in management of CMT disease 5,9,10,11 . Despite being underdiagnosed, pain is a common complaint in these patients.…”

Section: Introductionmentioning

confidence: 99%

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

Azevedo

Costa

Davidovich

et al. 2021

Arq. Neuro-Psiquiatr.

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Pain in Charcot-Marie-Tooth disease: an update

Cited by 27 publications

References 11 publications

HDAC6: A Key Link Between Mitochondria and Development of Peripheral Neuropathy

HDAC6: A Key Link Between Mitochondria and Development of Peripheral Neuropathy

Long‐term walking ability and patient satisfaction after lower limb functional surgery in patients affected by Charcot‐Marie‐Tooth disease: A retrospective study

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

Contact Info

Product

Resources

About