Charcot-Marie-Tooth Disease in Molise, a Central-Southern Region of Italy: An Epidemiological Study

Morocutti, C; Colazza, G. B.; Soldati, G.; D'alessio, C.; Damiano, Maria; Casali, Carlo; Pierelli, Francesco

doi:10.1159/000065642

Cited by 27 publications

(21 citation statements)

References 14 publications

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“…In conclusion, the prevalence of CMT found in Belgrade (9.7/100,000) is similar to the prevalence in Southern European countries [11,12] . However, we suggest that the number of CMT patients in Belgrade population would be greater if there was an official protocol for the discovery of oligo-presymptomatic cases -probably by complete testing of whole families with at least 1 member affected by CMT disease -and if we had been in a position to include all members of the majority of investigated families in the study, who were scattered and out of Belgrade territory.…”

Section: Discussionsupporting

confidence: 80%

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

Mladenović

Rašić²,

Marković³

et al. 2011

Neuroepidemiology

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Background: The aim of this study was to determine prevalence and 15-year survival in Charcot-Marie-Tooth disease (CMT). Methods: The study covers the period from 1 January 1988 to 31 December 2007 in the territory of Belgrade. Data on a number of CMT-affected persons and their basic demographic characteristics as well as data on the disease were collected from medical records. Data on the course and outcome of the disease were obtained through direct contact with patients, their families and their physicians. Results: We registered 161 patients with CMT in the population of Belgrade. The most frequent type was CMT1. The crude prevalence of CMT disease in the Belgrade population on 31 December 2007 was 9.7/100,000 for all subtypes, 7.1/100,000 for CMT1, and 2.3/100,000 for CMT2. Gender-specific prevalence was 11.2/100,000 for males and 8.3/100,000 for females. The highest age-specific prevalence was registered in the oldest age group (75+ years; 19.1/100,000), and the lowest one in patients aged 5–14 years (5.0/100,000). The cumulative probability of 15-year survival for CMT patients in Belgrade was 85.6 ± 7.8% (44.9 ± 31.8% for males and 98.2 ± 1.8% for females). Conclusions: The prevalence of CMT found in Belgrade is similar to the prevalence registered in Southern European countries.

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Section: Discussionsupporting

confidence: 80%

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

Mladenović

Rašić²,

Marković³

et al. 2011

Neuroepidemiology

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“…The higher prevalence in the current study is probably due to more cases being diagnosed because of the higher [8,9,[11][12][13] . The diagnosis in this study is based on typical clinical symptoms and the results of neurophysiologic studies [1] .…”

Section: Discussionmentioning

confidence: 54%

“…This presents a problem in case finding, and most prevalence studies have included a number of individuals with little or no symptoms that were only discovered when seemingly unaffected family members were studied. This may explain the somewhat higher prevalence found in other studies [6,8,11,12] . We only included individuals who sought medical attention because of their symptoms.…”

Section: Discussionmentioning

confidence: 58%

“…Only 16% (6/37) of our patients had CMT2 compared with 15% in Sweden, 12% in the UK, 26% in Italy and 46% in Spain [8,[11][12][13] .…”

Section: Discussionmentioning

confidence: 63%

“…Only a few population-based studies have reported the prevalence of CMT, ranging from 4.7 to 41/10 5 population, and even fewer since the advent of genetic testing [6][7][8][9][10][11][12][13][14] . The apparent discrepancy in the results of the various prevalence studies may be caused by a difference in methodology, including case identification.…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of Symptomatic Charcot-Marie-Tooth Disease in Iceland: A Study of a Well-Defined Population

et al. 2009

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Background/Aim: To determine the prevalence and clinical spectrum of Charcot-Marie-Tooth disease (CMT) in Iceland. Methods: We identified all individuals with symptomatic CMT, based on information from all practicing neurologists, both neurophysiology laboratories and the only neurology department in the country. The diagnosis was based on clinical features and neurophysiological testing. DNA testing was regarded as confirmatory. Results: We identified 37 individuals in 18 families, which were not linked by identifying 5 generations of ancestors. The point prevalence (January 1, 2007) for all CMT subtypes in Iceland was 12.0/10⁵, 10.1/10⁵ for CMT1 and 2.0/10⁵ for CMT2. The clinical features include lower limb weakness (95%), impaired gait (68%), decreased or absent deep tendon reflexes (86%), pes cavus (70%) and hammer toes (46%). Clinical symptoms were similar for the 2 main CMT subtypes. Conclusion: We report the prevalence and clinical spectrum of CMT, which is comparable to the results of other prevalence studies, in a well-defined, total population sample.

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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Chelban

Wilson

Warman‐Chardon

et al. 2019

Annals of Neurology

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Objective To identify disease‐causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. Methods We performed genome‐wide sequencing, homozygosity mapping, and segregation analysis for novel disease‐causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient‐derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating scales, electrophysiology, and biochemical quantification. Results We identified biallelic mutations in PDXK in 5 individuals from 2 unrelated families with primary axonal polyneuropathy and optic atrophy. The natural history of this disorder suggests that untreated, affected individuals become wheelchair‐bound and blind. We identified conformational rearrangement in the mutant enzyme around the ATP‐binding pocket. Low PDXK ATP binding resulted in decreased erythrocyte PDXK activity and low pyridoxal 5′‐phosphate (PLP) concentrations. We rescued the clinical and biochemical profile with PLP supplementation in 1 family, improvement in power, pain, and fatigue contributing to patients regaining their ability to walk independently during the first year of PLP normalization. Interpretation We show that mutations in PDXK cause autosomal recessive axonal peripheral polyneuropathy leading to disease via reduced PDXK enzymatic activity and low PLP. We show that the biochemical profile can be rescued with PLP supplementation associated with clinical improvement. As B6 is a cofactor in diverse essential biological pathways, our findings may have direct implications for neuropathies of unknown etiology characterized by reduced PLP levels. ANN NEUROL 2019;86:225–240

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Charcot-Marie-Tooth Disease in Molise, a Central-Southern Region of Italy: An Epidemiological Study

Cited by 27 publications

References 14 publications

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

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

Prevalence of Symptomatic Charcot-Marie-Tooth Disease in Iceland: A Study of a Well-Defined Population

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

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