2018
DOI: 10.1007/s10545-018-0243-7
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Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study

Abstract: Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset < 1 year) to a milder adult onset myopathy. The aims of this study were to characterize the GAA mutations, to establish the disease epidemiology, and to identify potential genotype-phenotype correlations in French late-onset PD patients (onset ≥ 2 years) diagnosed since the 1970s. Data were collected fr… Show more

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Cited by 34 publications
(43 citation statements)
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“…One hundred eighty-four adult patients with Pompe disease have been included in the French registry, thus constituting one of the largest cohorts at the country level. All the patients included in the present study were previously reported in an epidemiological study, 5 and twelve of them have been the subject of a study on effect of ERT on patients with advanced late-onset Pompe disease. 33 In the current study we focused on the long-term efficacy of ERT, and we demonstrated that ERT significantly improves motor function during the first 3 years after initiation of treatment, and slow down the rate of progression of respiratory involvement.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…One hundred eighty-four adult patients with Pompe disease have been included in the French registry, thus constituting one of the largest cohorts at the country level. All the patients included in the present study were previously reported in an epidemiological study, 5 and twelve of them have been the subject of a study on effect of ERT on patients with advanced late-onset Pompe disease. 33 In the current study we focused on the long-term efficacy of ERT, and we demonstrated that ERT significantly improves motor function during the first 3 years after initiation of treatment, and slow down the rate of progression of respiratory involvement.…”
Section: Discussionmentioning
confidence: 99%
“…The clinical spectrum of this disease is extremely broad, varying from the very severe classic infantile‐onset form to a slowly progressive adult form 1,2 presenting with adult‐onset muscular manifestations associating limb‐girdle weakness and diaphragmatic paralysis 3,4 . The incidence of late onset Pompe disease varies among ethnic groups, the prevalence being estimated in 1/69927 newborns in France 5 . Disease progression generally occurs over decades, and the majority of patients ultimately need a wheelchair or respiratory assistance.…”
Section: Introductionmentioning
confidence: 99%
“…Reporting these novel variants is especially relevant for the prediction of phenotypes associated with these variants. While our manuscript was in preparation, 11 of these 80 novel variants appeared in a report on GAA variants discovered in French patients with Pompe disease (Semplicini et al, ).…”
Section: Discussionmentioning
confidence: 99%
“…The homozygous variants in Groups B and C are group‐specific, except for the most common c.‐13‐32T>G variant, which is known to be associated with a very broad clinical spectrum (M. Kroos et al, ; M. Kroos et al, ; M. A. Kroos et al, ; Montalvo et al, ; Semplicini et al, ). While we recognize and acknowledge apparent discrepancies in the reported data across the three phenotypic subgroups, these generally were not very many overall and were not sufficient to impact our conclusions.…”
Section: Discussionmentioning
confidence: 99%
“…L'accumulation de glycogène caractéristique de la glycogénose de type 2 est objectivable à la coloration au PAS 6 , mais aussi en microscopie électronique. Dans 70 à 89 % des cas de maladie de Pompe à début tardif (late onset Pompe disease ou LOPD), l'examen de la biopsie musculaire retrouve des anomalies : vacuoles (parfois optiquement vides), activation lysosomale, accumulation d'agrégats autophagiques... Une étude a été menée, en aveugle, sur 16 patients du registre français de la maladie de Pompe atteints de LOPD et non traités par enzymothérapie au moment de leur biopsie musculaire.…”
Section: Forme Tardive : Analyser Les Biopsies Musculaires Pour éClaiunclassified