ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Eva Morava; Vera Tiemes; Christian Tiel; Nathalie Seta; Pascale de Lonlay; Hans de Klerk; Margot Mulder; Estela Rubio-Gozalbo; Gepke Visser; Peter van Hasselt; Dafne D G Horovitz; Carolina Fischinger Moura de Souza; Ida V D Schwartz; Andrew Green; Mohammed Al-Owain; Graciella Uziel; Sabine Sigaudy; Brigitte Chabrol; Franc Jan van Spronsen; Martin Steinert; Eleni Komini; Donald Wurm; Andrea Bevot; Addelkarim Ayadi; Karin Huijben; Marli Dercksen; Peter Witters; Jaak Jaeken; Gert Matthijs; Dirk J. Lefeber; Ron A. Wevers

doi:10.1007/s10545-016-9945-x

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Eva Morava^*, Vera Tiemes, Christian Tiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot Mulder, Estela Rubio-Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D G Horovitz, Carolina Fischinger Moura de Souza, Ida V D Schwartz, Andrew Green, Mohammed Al-Owain, Graciella Uziel, Sabine Sigaudy, Brigitte Chabrol, Franc Jan van Spronsen, Martin SteinertEleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Introduction: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. Methods: Based on Euroglycan database registration, we approached referring clinicians and collected comprehensive data on 41 patients. Results: We found hypotonia and developmental delay in all ALG6-CDG patients and epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in

Original language	English
Pages (from-to)	713-723
Number of pages	11
Journal	Journal of Inherited Metabolic Disease
Volume	39
Issue number	5
DOIs	https://doi.org/10.1007/s10545-016-9945-x
Publication status	Published - Sept 2016

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Morava, E., Tiemes, V., Tiel, C., Seta, N., de Lonlay, P., de Klerk, H., Mulder, M., Rubio-Gozalbo, E., Visser, G., van Hasselt, P., Horovitz, D. D. G., de Souza, C. F. M., Schwartz, I. V. D., Green, A., Al-Owain, M., Uziel, G., Sigaudy, S., Chabrol, B., van Spronsen, F. J., ... Wevers, R. A. (2016). ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Journal of Inherited Metabolic Disease, 39(5), 713-723. https://doi.org/10.1007/s10545-016-9945-x

@article{0b60ca26a00346f9ba50974e72395c8c,

title = "ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies",

abstract = "Introduction: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. Methods: Based on Euroglycan database registration, we approached referring clinicians and collected comprehensive data on 41 patients. Results: We found hypotonia and developmental delay in all ALG6-CDG patients and epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in ",

author = "Eva Morava and Vera Tiemes and Christian Tiel and Nathalie Seta and {de Lonlay}, Pascale and {de Klerk}, Hans and Margot Mulder and Estela Rubio-Gozalbo and Gepke Visser and {van Hasselt}, Peter and Horovitz, {Dafne D G} and {de Souza}, {Carolina Fischinger Moura} and Schwartz, {Ida V D} and Andrew Green and Mohammed Al-Owain and Graciella Uziel and Sabine Sigaudy and Brigitte Chabrol and {van Spronsen}, {Franc Jan} and Martin Steinert and Eleni Komini and Donald Wurm and Andrea Bevot and Addelkarim Ayadi and Karin Huijben and Marli Dercksen and Peter Witters and Jaak Jaeken and Gert Matthijs and Lefeber, {Dirk J.} and Wevers, {Ron A.}",

year = "2016",

month = sep,

doi = "10.1007/s10545-016-9945-x",

language = "English",

volume = "39",

pages = "713--723",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "5",

}

Morava, E, Tiemes, V, Tiel, C, Seta, N, de Lonlay, P, de Klerk, H, Mulder, M, Rubio-Gozalbo, E, Visser, G, van Hasselt, P, Horovitz, DDG, de Souza, CFM, Schwartz, IVD, Green, A, Al-Owain, M, Uziel, G, Sigaudy, S, Chabrol, B, van Spronsen, FJ, Steinert, M, Komini, E, Wurm, D, Bevot, A, Ayadi, A, Huijben, K, Dercksen, M, Witters, P, Jaeken, J, Matthijs, G, Lefeber, DJ & Wevers, RA 2016, 'ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies', Journal of Inherited Metabolic Disease, vol. 39, no. 5, pp. 713-723. https://doi.org/10.1007/s10545-016-9945-x

TY - JOUR

T1 - ALG6-CDG

T2 - a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

AU - Morava, Eva

AU - Tiemes, Vera

AU - Tiel, Christian

AU - Seta, Nathalie

AU - de Lonlay, Pascale

AU - de Klerk, Hans

AU - Mulder, Margot

AU - Rubio-Gozalbo, Estela

AU - Visser, Gepke

AU - van Hasselt, Peter

AU - Horovitz, Dafne D G

AU - de Souza, Carolina Fischinger Moura

AU - Schwartz, Ida V D

AU - Green, Andrew

AU - Al-Owain, Mohammed

AU - Uziel, Graciella

AU - Sigaudy, Sabine

AU - Chabrol, Brigitte

AU - van Spronsen, Franc Jan

AU - Steinert, Martin

AU - Komini, Eleni

AU - Wurm, Donald

AU - Bevot, Andrea

AU - Ayadi, Addelkarim

AU - Huijben, Karin

AU - Dercksen, Marli

AU - Witters, Peter

AU - Jaeken, Jaak

AU - Matthijs, Gert

AU - Lefeber, Dirk J.

AU - Wevers, Ron A.

PY - 2016/9

Y1 - 2016/9

N2 - Introduction: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. Methods: Based on Euroglycan database registration, we approached referring clinicians and collected comprehensive data on 41 patients. Results: We found hypotonia and developmental delay in all ALG6-CDG patients and epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in

AB - Introduction: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. Methods: Based on Euroglycan database registration, we approached referring clinicians and collected comprehensive data on 41 patients. Results: We found hypotonia and developmental delay in all ALG6-CDG patients and epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in

UR - http://www.scopus.com/inward/record.url?scp=84973630047&partnerID=8YFLogxK

U2 - 10.1007/s10545-016-9945-x

DO - 10.1007/s10545-016-9945-x

M3 - Article

C2 - 27287710

AN - SCOPUS:84973630047

SN - 0141-8955

VL - 39

SP - 713

EP - 723

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 5

ER -

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

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