Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2‐CDG)

Diego, Vitor; Martinez‐Monseny, Antonio; Muchart, Jordi; Cuadras, Daniel; Montero, R.; Artuch, R; Pérez‐Cerdá, Celia; Pérez, B.; Pérez-Dueñas, B; Poretti, Andrea E.; Serrano, Mercedes; Aguilera-Albesa, Sergio; Candela, R; Ml, Carrasco-Marina; Carratalá, Fernando Rigo; Couce, María L.; Andrés, Felipe; García, Olano; García‐Silva, María Teresa; Gutiérrez-Solana, Luis González; Macaya, Albert; Miranda, M.C.; López, Laura; López‐Laso, Eduardo; Poo, Mónica; Quijada-Fraile, P.; Robles, Brenda Corchado; Sierra-Córcoles, C.; Velazquez-Fragua, R.

doi:10.1007/s10545-017-0056-0

Cited by 2 publications

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“…It has two clinical presentations. The neurological subtype presents with cerebellar atrophy with ataxia, intellectual disability, seizures, retinopathy, stroke like episodes and peripheral neuropathy [ 14 ]. The more severe and potentially lethal multisystem phenotype, also has organ involvement such as hepato-gastrointestinal (chronic diarrhea, protein-losing enteropathy, liver failure, cirrhosis), cardiac and kidney disease [ 15 ].…”

Section: Resultsmentioning

confidence: 99%

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

2017

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Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI)-CDG was the first treatable CDG by high dose mannose supplements. Recently, with the successful use of d-galactose in Phosphoglucomutase 1 (PGM1)-CDG, other CDG types have been trialed on galactose and with an increasing number of potential nutritional therapies. Current mini review focuses on therapies in glycosylation disorders affecting liver function and dietary intervention in general in N-linked glycosylation disorders. We also emphasize now the importance of early screening for CDG in patients with mild hepatopathy but also in cholestasis.

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Section: Resultsmentioning

confidence: 99%

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

2017

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“…1,2 The estimated incidence is 1:40,000 to 80,000, 3 and > 900 patients have been reported worldwide. 7 It is present in the large majority of patients, even in those clinically less affected. [4][5][6] Cerebellar atrophy is more pronounced during the first decade of life.…”

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confidence: 99%

“…Patients with PMM2-CDG develop cerebellar atrophy, and a cerebellar syndrome explains many key neurological signs found in PMM2-CDG patients, such as ataxia, dysmetria, abnormal eye movements, dysarthria, and behavioral and cognitive deficits. 6,7 However, there is a stabilization or even an amelioration of cerebellar motor symptoms through the first and second decades of life, assessed with the International Cooperative Ataxia Rating Scale (ICARS) validated for children with PMM2-CDG. 7 It is present in the large majority of patients, even in those clinically less affected.…”

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confidence: 99%

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Martinez‐Monseny¹,

Bolasell²,

Callejón‐Póo³

et al. 2019

Annals of Neurology

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Objective: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for which acetazolamide therapy is suggested. Impairment in N-glycosylation of CaV2.1 promotes gain-of-function effects and may participate in cerebellar syndrome in PMM2-CDG. AZATAX was designed to establish whether acetazolamide is safe and improves cerebellar syndrome in PMM2-CDG. Methods: A clinical trial included PMM2-CDG patients, with a 6-month first-phase single acetazolamide therapy group, followed by a randomized 5-week withdrawal phase. Safety was assessed. The primary outcome measure was improvement in the International Cooperative Ataxia Rating Scale (ICARS). Other measures were the Nijmegen Pediatric CDG Rating Scale (NPCRS), a syllable repetition test (PATA test), and cognitive scores. Results: Twenty-four patients (mean age = 12.3 AE 4.5 years) were included, showing no serious adverse events. Thirteen patients required dose adjustment due to low bicarbonate or asthenia. There were improvements on ICARS (34.9 AE 23.2 vs 40.7 AE 24.8, effect size = 1.48, 95% confidence interval [CI] = 4.0-7.6, p < 0.001), detected at 6 weeks in 18 patients among the 20 responders, on NPCRS (95% CI = 0.3-1.6, p = 0.013) and on the PATA test (95% CI = 0.5-3.0, p = 0.006). Acetazolamide improved prothrombin time, factor X, and antithrombin. Clinical severity, epilepsy, and lipodystrophy predicted greater response. The randomized withdrawal phase showed ICARS worsening in the withdrawal group (effect size = 1.46, 95% CI = 2.65-7.52, p = 0.001). Interpretation: AZATAX is the first clinical trial of PMM2-CDG. Acetazolamide is well tolerated and effective for motor cerebellar syndrome. Its ability to prevent SLEs and its long-term effects on kidney function should be addressed in future studies. ANN NEUROL 2019;85:740-751 View this article online at wileyonlinelibrary.com.

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Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2‐CDG)

Cited by 2 publications

References 0 publications

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

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