Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.

Autor: Laur D; Department of Paediatric Neurology, Hôpital Robert-Debré, AP-HP, Paris, France., Pichard S; Reference Centre for Inborn Errors of Metabolism, Necker Enfants-Malades Hospital, AP-HP, Paris, France., Bekri S; Metabolic Biochemistry Department, Rouen University Hospital, Rouen, France.; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, Rouen, France., Caillaud C; Biochemistry, Metabolomic and Proteomic Department, INSERM UMRS 1151, Necker Enfants Malades, Paris, France., Froissart R; Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, CHU de Lyon, Bron, France., Levade T; Laboratoire de Biochimie Métabolique, CHU de Toulouse, and INSERM UMR1037, CRCT (Cancer Research Center of Toulouse), Université Paul Sabatier, Toulouse, France., Roubertie A; Département de Neuropédiatrie, CIC, CHU de Montpellier, INM, Univ Montpellier, INSERM U1298, Montpellier, France., Desguerre I; Reference Center of Neuromuscular Disorders Nord/Est/Île-de-France, Pediatric Neurology Department, Necker-Enfants-Malades Hospital, AP-HP, Paris, France., Héron B; Centre de Référence des Maladies Lysosomales, Service de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, APHP, Fédération Hospitalo-Universitaire I2-D2 AP-HP.Sorbonne-Université, Paris, France., Auvin S; Université Paris-Cité, INSERM NeuroDiderot, Paris, France.; Institut Universitaire de France (IUF), Paris, France.
Jazyk: angličtina
Zdroj: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Sep; Vol. 46 (5), pp. 972-981. Date of Electronic Publication: 2023 Jul 11.
DOI: 10.1002/jimd.12646
Abstrakt: GM1 gangliosidosis is a rare lysosomal storage disorder associated with β-galactosidase enzyme deficiency. There are three types of GM1 gangliosidosis based on age of symptom onset, which correlate with disease severity. In 2019, we performed a retrospective multicentric study including all patients diagnosed with GM1 gangliosidosis in France since 1998. We had access to data for 61 of the 88 patients diagnosed between 1998 and 2019. There were 41 patients with type 1 (symptom onset ≤6 months), 11 with type 2a (symptom onset from 7 months to 2 years), 5 with type 2b (symptom onset from 2 to 3 years), and 4 with type 3 (symptom onset >3 years). The estimated incidence in France was 1/210000. In patients with type 1, the first symptoms were hypotonia (26/41, 63%), dyspnea (7/41, 17%), and nystagmus (6/41, 15%), whereas in patients with type 2a, these were psychomotor regression (9/11, 82%) and seizures (3/11, 27%). In types 2b and 3, the initial symptoms were mild, such as speech difficulties, school difficulties, and progressive psychomotor regression. Hypotonia was observed in all patients, except type 3. The mean overall survival was 23 months (95% confidence interval [CI]: 7, 39) for type 1 and 9.1 years (95% CI: 4.5, 13.5) for type 2a. To the best of our knowledge, this is one of the largest historical cohorts reported, which provides important information on the evolution of all types of GM1 gangliosidosis. These data could be used as a historical cohort in studies assessing potential therapies for this rare genetic disease.
(© 2023 SSIEM.)
Databáze: MEDLINE
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