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

Acta Neurologica Belgica

Volumn 114, Issue 2, 2014, Pages 165-166

  Peric, S ^a   Fumic, K ^b   Bilic, K ^b   Reuser, A ^c   Rakocevic Stojanovic, V ^a  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b KBC Zagreb   (Croatia)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Intracranial aneurysm; Late onset Pompe disease; Lysosomal storage disease; Novel mutation; Subarachnoid hemorrhage

Indexed keywords

ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; GLUCAN 1, 4 ALPHA GLUCOSIDASE; UNCLASSIFIED DRUG; ALPHA GLUCOSIDASE; GAA PROTEIN, HUMAN;

ADULT; CASE REPORT; CEREBRAL ARTERY DISEASE; COMPUTER ASSISTED TOMOGRAPHY; ELECTROMYOGRAPHY; FOLLOW UP; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LABORATORY TEST; LETTER; LUNG EMBOLISM; MALE; MIDDLE AGED; MIDDLE CEREBRAL ARTERY ANEURYSM; NEUROLOGIC EXAMINATION; SPIROMETRY; SUBARACHNOID HEMORRHAGE; ANEURYSM, RUPTURED; COMPLICATION; ELECTROENCEPHALOGRAPHY; GENETICS; INTRACRANIAL ANEURYSM; MUTATION;

ALPHA-GLUCOSIDASES; ANEURYSM, RUPTURED; ELECTROENCEPHALOGRAPHY; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INTRACRANIAL ANEURYSM; MALE; MIDDLE AGED; MUTATION;

EID: 84901606437     PISSN: 03009009     EISSN: 22402993     Source Type: Journal    
DOI: 10.1007/s13760-013-0265-8     Document Type: Letter

References (5)

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): 80-88.
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): 2063-2066.
3. 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): 1730-1733.
4. 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): 362-366.
5. 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): 1161-1165.