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Acta Neurologica Belgica
Published in: Acta Neurologica Belgica 2/2014

01-06-2014 | Letter to the Editor

Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation

Authors: S. Peric, K. Fumic, K. Bilic, A. Reuser, V. Rakocevic Stojanovic

Published in: Acta Neurologica Belgica | Issue 2/2014

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Excerpt

Pompe disease is an autosomal recessive disorder caused by deficient activity of acid alpha-glucosidase [1]. Infantile Pompe disease presents in the first months of life and most untreated infants die within first year. Late-onset Pompe disease leads to severe proximal and respiratory muscle weakness, while residual enzyme activity prevents cardiomyopathy. …
Literature
1.
Schüller A, Wenninger S, Strigl-Pill N, Schoser B (2012) Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet 160(1):80–88CrossRef
2.
Laforêt P, Petiot P, Nicolino M, Orlikowski D, Caillaud C, Pellegrini N, Froissart R, Petitjean T, Maire I, Chabriat H, Hadrane L, Annane D, Eymard B (2008) Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology 70(22):2063–2066PubMedCrossRef
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Sacconi S, Bocquet JD, Chanalet S, Tanant V, Salviati L, Desnuelle C (2010) Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol 257(10):1730–1733PubMedCrossRef
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El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, Kishnani PS (2011) Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab 103(4):362–366PubMedCrossRef
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Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A, GAA Database Consortium (2012) Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Hum Mutat 33(8):1161–1165PubMedCrossRef
Metadata
Title
Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation
Authors
S. Peric
K. Fumic
K. Bilic
A. Reuser
V. Rakocevic Stojanovic
Publication date
01-06-2014
Publisher
Springer Milan
Published in
Acta Neurologica Belgica / Issue 2/2014
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-013-0265-8

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