Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)

Journal of Inherited Metabolic Disease

Volumn 39, Issue 3, 2016, Pages 391-398

  Montagnese, Federica ^a   Granata, Francesca ^b   Musumeci, Olimpia ^a   Rodolico, Carmelo ^a   Mondello, Stefania ^a   Barca, Emanuele ^a   Cucinotta, Maria ^a   Ciranni, Anna ^a   Longo, Marcello ^b   Toscano, Antonio ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CONTRAST MEDIUM; ALPHA GLUCOSIDASE;

ADOLESCENT; ADULT; AGED; ARTICLE; BASILAR ARTERY FENESTRATION; BRAIN DISEASE; CARDIOVASCULAR RISK; CEREBROVASCULAR DISEASE; CLINICAL ARTICLE; COHORT ANALYSIS; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; COMPUTED TOMOGRAPHY SCANNER; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; IMAGE RECONSTRUCTION; LATE ONSET POMPE DISEASE; MALE; MIDDLE AGED; THREE DIMENSIONAL IMAGING; UNRUPTURED INTRACRANIAL ANEURYSM; VERTEBROBASILAR DOLICHOECTASIA; YOUNG ADULT; ABNORMALITIES; ARTERY; DIAGNOSTIC IMAGING; METABOLISM; ONSET AGE; PATHOLOGY; VASCULAR DISEASE;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ALPHA-GLUCOSIDASES; ARTERIES; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; MIDDLE AGED; VASCULAR DISEASES; YOUNG ADULT;

EID: 84964780457     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9913-x     Document Type: Article

References (32)

1. Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG (2005) Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. Neurology 64:368–70
2. Bertoldo F, Zappini F, Brigo M et al (2015) Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. J Clin Endocrinol Metab 100:401–6
3. Brown RD, Broderick JP (2014) Unrupted intracranial aneurysms: epidemiology, natural history, management options, and familial screening. Lancet Neurol 13:393–404
4. DeRuisseau LR, Fuller DD, Qiu K et al (2009) Neural deficits contribute to respiratory insufficiency in Pompe disease. Proc Natl Acad Sci U S A 106:9419–24
5. Förster A, Ssozi J, Al-Zghloul M, Brockmann MA, Kerl HU, Groden C (2014) A comparison of CT/CT angiography and MRI/MR angiography for imaging of vertebrobasilar dolichoectasia. Clin Neuroradiol 24(4):347–53
6. Gaeta M, Barca E, Ruggeri P et al (2013) A late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. Mol Genet Metab 110:290–6
7. Gutierrez J, Bagci A, Gardener H et al (2014) Dolichoectasia diagnostic methods in a multi-ethnic, stroke-free cohort: results from the Northern Manhattan Study. J Neuroimaging 24:226–31
8. Hensel O, Hanisch F, Stock K et al (2015) Morphology and function of cerebral arteries in adults with pompe. Dis JIMD Rep 20:27–33
9. Hobson-Webb LD, Proia AD, Thurberg BL et al (2012) Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab 106:462–9
10. Kanters TA, Hoogenboom-Plug I, Rutten-Van Mölken MP et al (2014) Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease. Orphanet J Rare Dis 9:75
11. Kapsalaki EZ, Rountas CD, Fountas KN (2012) The role of 3 tesla MRA in the detection of intracranial aneurysms. Int J Vasc Med 2012:792–834
12. Karabul N, Skudlarek A, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F (2014) Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectionalsurvey. JIMD Rep 17:53–61
13. Komotar RJ, Mocco J, Solomon RA (2008) Guidelines for the surgical treatment of unruptured intracranial aneurysms: the first annual J. Lawrence pool memorial research symposium—controversies in the management of cerebral aneurysms. Neurosurgery 62:183–93, discussion 193–4
14. Kretzschmar HA, Wagner H, Hübner G et al (1990) Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency. J Neurol Sci 98:169–83
15. Kumral E, Kisabay A, Ataç C et al (2005) The mechanism of ischemic stroke in patients with dolichoectatic basilar artery. Eur J Neurol 12:437–44
16. Laforêt P, Petiot P, Nicolino M et al (2008) Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology 70(22):2063–6
17. Laforêt P, Laloui K, Granger B, The French Pompe registry et al (2013) Baseline characteristics of a cohort of 126 patients with adult Pompe disease. Rev Neurol (Paris) 169(8–9):595–602
18. Lim JA, Li L, Raben N (2014) Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci 6:177
19. Mellies U, Lofaso F (2009) Pompe disease: a neuromuscular disease with respiratory muscle involvement. Respir Med 103:477–84
20. Montagnese F, Barca E, Musumeci O et al (2015) Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. J Neurol 262:968–78
21. Musumeci O, Catalano N, Barca E et al (2012) Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients. Mol Genet Metab 107:480–4
22. Passero SG, Rossi S (2008) Natural history of vertebrobasilar dolichoectasia. Neurology 70:66–72
23. Pizza F, Biallas M, Wolf M et al (2010) Nocturnal cerebral hemodynamics in snorers and in patients with obstructive sleep apnea: a near-infrared spectroscopy study. Sleep 33:205–10
24. Remiche G, Herbaut AG, Ronchi D et al (2012) Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition. Eur Neurol 68:75–8
25. Sacconi S, Bocquet JD, Chanalet S, Tanant V, Salviati L (2010) Desnuelle C abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol 257:1730–3
26. Schüller A, Wenninger S, Strigl-Pill N et al (2012) Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet 160C:80–8
27. Sogawa K, Kikuchi Y, O’uchi T et al (2013) Fenestrations of the basilar artery demonstrated on magnetic resonance angiograms: an analysis of 212 cases. Interv Neuroradiol 19:461–5
28. Tanaka M, Sakaguchi M, Miwa K et al (2013) Basilar artery diameter is an independent predictor of incident cardiovascular events. Arterioscler Thromb Vasc Biol 33:2240–4
29. Toscano A, Schoser B (2013) Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol 260:951–9
30. Vlak MH, Algra A, Branderburg R et al (2011) Prevalence of unrupted intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis. Lancet Neurol 10:595–7
31. Wiebers DO (2006) Unruptured intracranial aneurysms: natural history and clinical management. Update on the international study of unruptured intracranial aneurysms. Neuroimaging Clin N Am 16:383–390
32. Yuan YJ, Xu K, Yu J (2014) Research progress on vertebrobasilar dolichoectasia. Int J Med Sci 11:1039–1048