White matter lesions in treated late onset Pompe disease are not different to matched controls.
Mol Genet Metab
; 127(2): 128-131, 2019 06.
Article
em En
| MEDLINE
| ID: mdl-31153821
ABSTRACT
INTRODUCTION:
Genetic deficiency of α-1,4-glucosidase leads to multi-systemic glycogen storage and causes muscular disorder known as classic infantile Pompe disease (CIOPD) and late onset Pompe disease (LOPD). Treatment with recombinant human alglucosidase alfa is available as enzyme replacement therapy (ERT). Recently progressive white matter lesions (WML) have been observed as a new phenotype in CIOPD patients on treatment with ERT.OBJECTIVE:
To investigate the impact of disease and ERT for the development of WML in LOPD.METHODS:
WML were analysed in 19 treated LOPD patients and compared with findings of 38 matched controls.RESULTS:
Patients median age was 54.4â¯years (range 19 to 82â¯years) with median disease duration of 7â¯years (range 2 to 40â¯years). Median ERT duration was 63â¯months (range 9 to 135â¯months). Grading of WML by Fazekas Score was not different in LOPD patients and controls Mean of total Fazekas score in LOPD was 2.42⯱â¯2.40 and in controls 1.60⯱â¯2.64; pâ¯=â¯0.68. Also volume of WML was similar in patients and controls (mean 5.27â¯ml⯱â¯5.88 and 7.89â¯ml⯱â¯11.40 respectively, pâ¯=â¯0.35). Total Fazekas grade correlated directly with the age in LOPD patients (râ¯=â¯0.60; pâ¯=â¯0.007) and in controls (râ¯=â¯0.32; pâ¯=â¯0.04). There was a negative correlation of ERT duration and total Fazekas grade (râ¯=â¯-0.41; pâ¯=â¯0.04).CONCLUSION:
The study suggests that WML in LOPD mainly result from concomitant cerebrovascular risk factors rather than from the Pompe disease itself.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio Tipo II
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Terapia de Reposição de Enzimas
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Substância Branca
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Transtornos de Início Tardio
Tipo de estudo:
Etiology_studies
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Observational_studies
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Risk_factors_studies
Limite:
Adult
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Aged
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Aged80
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article