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Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

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Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. / Lukacs, Zoltan; Nieves Cobos, Paulina; Wenninger, Stephan; Willis, Tracey A; Guglieri, Michela; Roberts, Marc; Quinlivan, Rosaline; Hilton-Jones, David; Evangelista, Teresinha; Zierz, Stephan; Schlotter-Weigel, Beate; Walter, Maggie C; Reilich, Peter; Klopstock, Thomas; Deschauer, Marcus; Straub, Volker; Müller-Felber, Wolfgang; Schoser, Benedikt.

in: NEUROLOGY, Jahrgang 87, Nr. 3, 19.07.2016, S. 295-8.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Lukacs, Z, Nieves Cobos, P, Wenninger, S, Willis, TA, Guglieri, M, Roberts, M, Quinlivan, R, Hilton-Jones, D, Evangelista, T, Zierz, S, Schlotter-Weigel, B, Walter, MC, Reilich, P, Klopstock, T, Deschauer, M, Straub, V, Müller-Felber, W & Schoser, B 2016, 'Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness', NEUROLOGY, Jg. 87, Nr. 3, S. 295-8. https://doi.org/10.1212/WNL.0000000000002758

APA

Lukacs, Z., Nieves Cobos, P., Wenninger, S., Willis, T. A., Guglieri, M., Roberts, M., Quinlivan, R., Hilton-Jones, D., Evangelista, T., Zierz, S., Schlotter-Weigel, B., Walter, M. C., Reilich, P., Klopstock, T., Deschauer, M., Straub, V., Müller-Felber, W., & Schoser, B. (2016). Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. NEUROLOGY, 87(3), 295-8. https://doi.org/10.1212/WNL.0000000000002758

Vancouver

Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. NEUROLOGY. 2016 Jul 19;87(3):295-8. https://doi.org/10.1212/WNL.0000000000002758

Bibtex

@article{a083611f8a8141e1963ae3d1ba5d3cb6,
title = "Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness",
abstract = "OBJECTIVE: We prospectively screened a large European cohort of patients presenting with hyperCKemia and/or limb-girdle muscular weakness (LGMW) for acid α-glucosidase (GAA) deficiency by dried blood spot (DBS) investigation.METHODS: DBS were collected from 3,076 consecutive adult patients from 7 German and British neuromuscular centers. All specimens were investigated for GAA deficiency by fluorometry. Samples with reduced enzyme activity were subsequently investigated for GAA gene mutations.RESULTS: Of 3,076 patients with DBS samples, 232 patients (7.6%) showed low GAA enzyme activity. Of these 232 patients, 55 (24%) presented with isolated hyperCKemia and 176 (76%) with hyperCKemia and LGMW. With both features present, 94% of the patients showed a low enzymatic activity. Mutational analysis found GAA gene mutations in 74 patients (2.4%); herein 70 patients were heterozygote for the common GAA gene splice-site mutation c.-32-13T>G. The most common clinical presentation in the confirmed Pompe cohort was a limb-girdle phenotype (85.3%) combined with ventilatory insufficiency (61%). Isolated hyperCKemia was found in 12%, while 2.7 had hyperCKemia and ventilatory insufficiency only.CONCLUSIONS: In a large cohort of unselected adult patients with hyperCKemia and/or LGMW, we found a prevalence of late-onset Pompe disease of 2.4%. Therefore, targeted screening of such a population should be encouraged in clinical practice.",
keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Creatine Kinase, Dried Blood Spot Testing, Female, Germany, Glycogen Storage Disease Type II, Humans, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle, Mutation, Phenotype, Prevalence, United Kingdom, Young Adult, alpha-Glucosidases, Journal Article, Multicenter Study",
author = "Zoltan Lukacs and {Nieves Cobos}, Paulina and Stephan Wenninger and Willis, {Tracey A} and Michela Guglieri and Marc Roberts and Rosaline Quinlivan and David Hilton-Jones and Teresinha Evangelista and Stephan Zierz and Beate Schlotter-Weigel and Walter, {Maggie C} and Peter Reilich and Thomas Klopstock and Marcus Deschauer and Volker Straub and Wolfgang M{\"u}ller-Felber and Benedikt Schoser",
note = "{\textcopyright} 2016 American Academy of Neurology.",
year = "2016",
month = jul,
day = "19",
doi = "10.1212/WNL.0000000000002758",
language = "English",
volume = "87",
pages = "295--8",
journal = "NEUROLOGY",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

RIS

TY - JOUR

T1 - Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

AU - Lukacs, Zoltan

AU - Nieves Cobos, Paulina

AU - Wenninger, Stephan

AU - Willis, Tracey A

AU - Guglieri, Michela

AU - Roberts, Marc

AU - Quinlivan, Rosaline

AU - Hilton-Jones, David

AU - Evangelista, Teresinha

AU - Zierz, Stephan

AU - Schlotter-Weigel, Beate

AU - Walter, Maggie C

AU - Reilich, Peter

AU - Klopstock, Thomas

AU - Deschauer, Marcus

AU - Straub, Volker

AU - Müller-Felber, Wolfgang

AU - Schoser, Benedikt

N1 - © 2016 American Academy of Neurology.

PY - 2016/7/19

Y1 - 2016/7/19

N2 - OBJECTIVE: We prospectively screened a large European cohort of patients presenting with hyperCKemia and/or limb-girdle muscular weakness (LGMW) for acid α-glucosidase (GAA) deficiency by dried blood spot (DBS) investigation.METHODS: DBS were collected from 3,076 consecutive adult patients from 7 German and British neuromuscular centers. All specimens were investigated for GAA deficiency by fluorometry. Samples with reduced enzyme activity were subsequently investigated for GAA gene mutations.RESULTS: Of 3,076 patients with DBS samples, 232 patients (7.6%) showed low GAA enzyme activity. Of these 232 patients, 55 (24%) presented with isolated hyperCKemia and 176 (76%) with hyperCKemia and LGMW. With both features present, 94% of the patients showed a low enzymatic activity. Mutational analysis found GAA gene mutations in 74 patients (2.4%); herein 70 patients were heterozygote for the common GAA gene splice-site mutation c.-32-13T>G. The most common clinical presentation in the confirmed Pompe cohort was a limb-girdle phenotype (85.3%) combined with ventilatory insufficiency (61%). Isolated hyperCKemia was found in 12%, while 2.7 had hyperCKemia and ventilatory insufficiency only.CONCLUSIONS: In a large cohort of unselected adult patients with hyperCKemia and/or LGMW, we found a prevalence of late-onset Pompe disease of 2.4%. Therefore, targeted screening of such a population should be encouraged in clinical practice.

AB - OBJECTIVE: We prospectively screened a large European cohort of patients presenting with hyperCKemia and/or limb-girdle muscular weakness (LGMW) for acid α-glucosidase (GAA) deficiency by dried blood spot (DBS) investigation.METHODS: DBS were collected from 3,076 consecutive adult patients from 7 German and British neuromuscular centers. All specimens were investigated for GAA deficiency by fluorometry. Samples with reduced enzyme activity were subsequently investigated for GAA gene mutations.RESULTS: Of 3,076 patients with DBS samples, 232 patients (7.6%) showed low GAA enzyme activity. Of these 232 patients, 55 (24%) presented with isolated hyperCKemia and 176 (76%) with hyperCKemia and LGMW. With both features present, 94% of the patients showed a low enzymatic activity. Mutational analysis found GAA gene mutations in 74 patients (2.4%); herein 70 patients were heterozygote for the common GAA gene splice-site mutation c.-32-13T>G. The most common clinical presentation in the confirmed Pompe cohort was a limb-girdle phenotype (85.3%) combined with ventilatory insufficiency (61%). Isolated hyperCKemia was found in 12%, while 2.7 had hyperCKemia and ventilatory insufficiency only.CONCLUSIONS: In a large cohort of unselected adult patients with hyperCKemia and/or LGMW, we found a prevalence of late-onset Pompe disease of 2.4%. Therefore, targeted screening of such a population should be encouraged in clinical practice.

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Creatine Kinase

KW - Dried Blood Spot Testing

KW - Female

KW - Germany

KW - Glycogen Storage Disease Type II

KW - Humans

KW - Male

KW - Middle Aged

KW - Muscular Dystrophies, Limb-Girdle

KW - Mutation

KW - Phenotype

KW - Prevalence

KW - United Kingdom

KW - Young Adult

KW - alpha-Glucosidases

KW - Journal Article

KW - Multicenter Study

U2 - 10.1212/WNL.0000000000002758

DO - 10.1212/WNL.0000000000002758

M3 - SCORING: Journal article

C2 - 27170567

VL - 87

SP - 295

EP - 298

JO - NEUROLOGY

JF - NEUROLOGY

SN - 0028-3878

IS - 3

ER -