Epidemiology of Charcot-Marie-Tooth Disease in the Population of Belgrade, Serbia

Mladenović, Jelena; Rašić, V. Milić; Marković, Mirjana; Romac, Stanka; Todorović, S.; Stojanović, Vidosava Rakočević; Tepavčević, Darija Kisić; Hofman, Albert; Pekmezović, Tatjana

doi:10.1159/000327029

Cited by 20 publications

(24 citation statements)

References 38 publications

(16 reference statements)

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“…The problem with estimating minimal prevalence in chronic disorders is to identify all the patients in the general population/geographical region. According to Mladenovic et al [15], CMT prevalence varies in different populations and different regions within countries.…”

Section: Discussionmentioning

confidence: 99%

“…The second study with the lowest prevalence was also a retrospective study [15], and diagnosis was confirmed only by clinical and CMT diagnosis established according to European CMT Consortium criteria.…”

Section: Discussionmentioning

confidence: 99%

“…Regarding the prevalence of CMT subtypes (CMT1 and CMT2), a majority of studies found through genetic testing that CMT1 was more prevalent than CMT2; in most studies, the duplication of chromosome 17p11.2 occurred more frequently, indicating a diagnosis of CMT1 [14,15,22]. …”

Section: Discussionmentioning

confidence: 99%

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Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

Barreto¹,

Oliveira²,

Nunes³

et al. 2016

Neuroepidemiology

219

143

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Background: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: CMT type 1 (CMT1; demyelinating form) and CMT type 2 (CMT2; axonal form). The objectives of this study were to systematically review and assess the quality of studies reporting the incidence and/or prevalence of CMT worldwide. Summary: A total of 802 studies were initially identified, with only 12 meeting the inclusion criteria. CMT prevalence was reported in 10 studies and ranged from 9.7/100,000 in Serbia to 82.3/100,000 in Norway. The frequency of the main subtypes varied from 37.6 to 84% for CMT1 and from 12 to 35.9% for CMT2; the country with the lowest prevalence of CMT1 was Norway, and the country with the highest prevalence of CMT1 was Iceland; on the other hand, CMT2 was least prevalent in the United Kingdom and most prevalent in Norway. Key Messages: This review reveals the gaps that still exist in the epidemiological knowledge of CMT around the world. Published studies are of varying quality and utilise different methodologies, thus precluding a robust conclusion. Additional research focusing on epidemiological features of CMT in different nations and different ethnic groups is needed.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

Barreto¹,

Oliveira²,

Nunes³

et al. 2016

Neuroepidemiology

219

143

View full text Add to dashboard Cite

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“…The different epidemiologic studies vary in quality and methodology, and prevalence estimates vary greatly ranging from 9.74 to 82.25 per 100,000. Few studies were performed nationwide, and no study had used nationwide register-based data 3…”

Section: Introductionmentioning

confidence: 99%

Validation of diagnostic codes for Charcot-Marie-Tooth disease in the Danish National Patient Registry

Vaeth¹,

Jensen²,

Christensen³

et al. 2016

CLEP

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PurposeTo validate the diagnostic codes for Charcot–Marie–Tooth disease (CMT) in the Danish National Patient Registry (DNPR) using positive predictive value (PPV) as a measure of validity.Patients and methodsWe used the DNPR to identify all patients diagnosed with at least one primary CMT diagnosis at a specialized department in the Central Denmark Region during the period 1977–2012. From this population, we randomly selected 123 patients for the validation study. Medical files were reviewed and used as reference standard. We estimated the PPV of the CMT diagnoses and stratified the analysis according to age at diagnosis, gender, and calendar time.ResultsIn the DNPR, 275 patients were identified. We were able to retrieve 96 medical files from the random sample of 123 patients, and 85 CMT diagnoses were confirmed. The average age at diagnosis was 42.5 years, and 34% were female. The PPV was 88.5% (95% confidence interval: 80.4–94.1).ConclusionThe CMT diagnoses in the DNPR have high validity. The DNPR can be used as a data source for epidemiologic research on CMT.

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“…The population prevalence of CMT is estimated to range from 9.7/100,000 in Serbia [13] to 82.3/100,000 in Norway [14]. Molecular diagnosis is reached in about 92% of CMT1 patients, but in only 43% of CMT2 patients [15].…”

mentioning

confidence: 99%

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study

Marttila¹,

Kytövuori²,

Helisalmi³

et al. 2017

Neuroepidemiology

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Background: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000. In this study, we have estimated the prevalence of CMT and its subtypes in Finland and examined the frequency of molecular etiologies. Methods: A population-based survey included adult patients with peripheral neuropathy from the province of Northern Ostrobothnia, Finland. Secondary causes of peripheral polyneuropathy were excluded and patients with clinical and neurophysiological features pertinent with CMT were included. Molecular diagnostics was carried out when DNA was available. Results: We found 107 subjects with CMT yielding a prevalence 34.6/100,000 in Northern Ostrobothnia. The heterozygous point mutation p.His123Arg in ganglioside induced differentiation associated protein 1 (GDAP1) was found in 31.5% and peripheral myelin protein 22 (PMP22) duplication in 16.9% of the affected. Point mutations in myelin protein zero, mitofusin 2, and gap junction protein beta 1 accounted for 6.7% of the cases. In addition, 18 persons had hereditary neuropathy with liability to pressure palsies and 15 of them carried the PMP22 deletion. Conclusions: The prevalence of CMT in Northern Ostrobothnia, Finland, seems to be slightly higher than those in previous studies in European populations. Founder mutation in the GDAP1 gene accounts for a large part of the genetically defined CMT2 in Finland.

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Epidemiology of Charcot-Marie-Tooth Disease in the Population of Belgrade, Serbia

Cited by 20 publications

References 38 publications

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

Validation of diagnostic codes for Charcot-Marie-Tooth disease in the Danish National Patient Registry

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study

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