Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease

References

1. 1.↵
   1. Germain DP

   . Fabry disease. Orphanet J Rare Dis 2010;5:30 doi:10.1186/1750-1172-5-30 pmid:21092187

   CrossRefPubMed
2. 2.↵
   1. Tuttolomondo A,
   2. Pecoraro R,
   3. Simonetta I, et al

   . Anderson-Fabry disease: a multiorgan disease. Curr Pharm Des 2013;19:5974–96 doi:10.2174/13816128113199990352 pmid:23448451

   CrossRefPubMed
3. 3.↵
   1. Cocozza S,
   2. Pontillo G,
   3. Quarantelli M, et al

   ; AFFINITY Study Group. Default mode network modifications in Fabry disease: a resting-state fMRI study with structural correlations. Hum Brain Mapp 2018;39:1755–64 doi:10.1002/hbm.23949 pmid:29315984

   CrossRefPubMed
4. 4.↵
   1. Cocozza S,
   2. Pisani A,
   3. Olivo G, et al

   . Alterations of functional connectivity of the motor cortex in Fabry disease: an RS-fMRI study. Neurology 2017;88:1822–29 doi:10.1212/WNL.0000000000003913 pmid:28404798

   Abstract/FREE Full Text
5. 5.↵
   1. Gabusi I,
   2. Pontillo G,
   3. Petracca M, et al

   . Structural disconnection and functional reorganization in Fabry disease: a multimodal MRI study. Brain Commun 2022;4:fcac187 doi:10.1093/braincomms/fcac187 pmid:35912136

   CrossRefPubMed
6. 6.↵
   1. Russo C,
   2. Pontillo G,
   3. Pisani A, et al

   . Striatonigral involvement in Fabry disease: a quantitative and volumetric magnetic resonance imaging study. Parkinsonism Relat Disord 2018;57:27–32 doi:10.1016/j.parkreldis.2018.07.011 pmid:30054181

   CrossRefPubMed
7. 7.↵
   1. Montella A,
   2. Tranfa M,
   3. Scaravilli A, et al

   . Assessing brain involvement in Fabry disease with deep learning and the brain‐age paradigm. Hum Brain Mapp 2024;45:e26599 doi:10.1002/hbm.26599 pmid:38520360

   CrossRefPubMed
8. 8.↵
   1. Ulivi L,
   2. Kanber B,
   3. Prados F, et al

   . White matter integrity correlates with cognition and disease severity in Fabry disease. Brain 2020;143:3331–42 doi:10.1093/brain/awaa282 pmid:33141169

   CrossRefPubMed
9. 9.↵
   1. Tuttolomondo A,
   2. Simonetta I,
   3. Riolo R, et al

   . Pathogenesis and molecular mechanisms of Anderson–Fabry disease and possible new molecular addressed therapeutic strategies. Int J Mol Sci 2021;22:10088 doi:10.3390/ijms221810088 pmid:34576250

   CrossRefPubMed
10. 10.↵
    1. Feldt-Rasmussen U

    . Fabry disease and early stroke. Stroke Res Treat 2011;2011:615218 doi:10.4061/2011/615218 pmid:21776363

    CrossRefPubMed
11. 11.↵
    1. Cocozza S,
    2. Russo C,
    3. Pontillo G, et al

    . Neuroimaging in Fabry disease: current knowledge and future directions. Insights Imaging 2018;9:1077–88 doi:10.1007/s13244-018-0664-8 pmid:30390274

    CrossRefPubMed
12. 12.↵
    1. Thijs V,
    2. Grittner U,
    3. Fazekas F, et al

    ; Stroke in Fabry (SIFAP1) Investigators. Dolichoectasia and small vessel disease in young patients with transient ischemic attack and stroke. Stroke 2017;48:2361–67 doi:10.1161/STROKEAHA.117.017406 pmid:28754833

    Abstract/FREE Full Text
13. 13.↵
    1. Lam YL,
    2. Sheng B,
    3. Kwok HM, et al

    . Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients. Orphanet J Rare Dis 2023;18:186 doi:10.1186/s13023-023-02759-6 pmid:37430370

    CrossRefPubMed
14. 14.↵
    1. Manara R,
    2. Carlier RY,
    3. Righetto S, et al

    . Basilar artery changes in Fabry disease. AJNR Am J Neuroradiol 2017;38:531–36 doi:10.3174/ajnr.A5069 pmid:28126747

    Abstract/FREE Full Text
15. 15.↵
    1. Garzuly F,
    2. Maródi L,
    3. Erdös M, et al

    . Megadolichobasilar anomaly with thrombosis in a family with Fabry’s disease and a novel mutation in the α-galactosidase A gene. Brain 2005;128:2078–83 doi:10.1093/brain/awh546 pmid:15947062

    CrossRefPubMedWeb of Science
16. 16.↵
    1. Fellgiebel A,
    2. Keller I,
    3. Martus P, et al

    . Basilar artery diameter is a potential screening tool for Fabry disease in young stroke patients. Cerebrovasc Dis 2011;31:294–99 doi:10.1159/000322558 pmid:21196729

    CrossRefPubMed
17. 17.↵
    1. Fazekas F,
    2. Enzinger C,
    3. Schmidt R, et al

    ; SIFAP 1 Investigators. Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event. Stroke 2015;46:1548–53 doi:10.1161/STROKEAHA.114.008548 pmid:25899239

    Abstract/FREE Full Text
18. 18.↵
    1. Üçeyler N,
    2. Homola GA,
    3. Guerrero González H, et al

    . Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease. PLoS One 2014;9:e87054 doi:10.1371/journal.pone.0087054 pmid:24475221

    CrossRefPubMed
19. 19.↵
    1. Politei J,
    2. Schenone AB,
    3. Burlina A, et al

    . Vertebrobasilar dolichoectasia in Fabry disease. J Inborn Errors Metab Screen 2014;2:232640981454124 doi:10.1177/2326409814541246

    CrossRef
20. 20.↵
    1. Zhang DP,
    2. Yin S,
    3. Zhang HL, et al

    . Association between intracranial arterial dolichoectasia and cerebral small vessel disease and its underlying mechanisms. J Stroke 2020;22:173–84 doi:10.5853/jos.2019.02985 pmid:32635683

    CrossRefPubMed
21. 21.↵
    1. Whybra C,
    2. Kampmann C,
    3. Krummenauer F, et al

    . The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004;65:299–307 doi:10.1111/j.1399-0004.2004.00219.x pmid:15025723

    CrossRefPubMedWeb of Science
22. 22.↵
    1. Mignani R,
    2. Pieruzzi F,
    3. Berri F, et al

    . FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease. Clin Kidney J 2016;9:739–47 doi:10.1093/ckj/sfw082 pmid:27679722

    CrossRefPubMed
23. 23.↵
    1. Zhang Y,
    2. Brady M,
    3. Smith S

    . Segmentation of brain MR images through a hidden Markov random field model and the expectation-maximization algorithm. IEEE Trans Med Imaging 2001;20:45–57 doi:10.1109/42.906424 pmid:11293691

    CrossRefPubMedWeb of Science
24. 24.↵
    1. Yamada H,
    2. Abe O,
    3. Shizukuishi T, et al

    . Efficacy of distortion correction on diffusion imaging: comparison of FSL Eddy and Eddy_Correct using 30 and 60 directions diffusion encoding. PLoS One 2014;9:e112411 doi:10.1371/journal.pone.0112411 pmid:25405472

    CrossRefPubMed
25. 25.↵
    1. O’Donnell LJ,
    2. Westin CF

    . An introduction to diffusion tensor image analysis. Neurosurg Clin N Am 2011;22:185–96, viii doi:10.1016/j.nec.2010.12.004 pmid:21435570

    CrossRefPubMed
26. 26.↵
    1. Tae WS,
    2. Ham BJ,
    3. Pyun SB, et al

    . Current clinical applications of diffusion-tensor imaging in neurological disorders. J Clin Neurol 2018;14:129–40 doi:10.3988/jcn.2018.14.2.129 pmid:29504292

    CrossRefPubMed
27. 27.↵
    1. Lerner A,
    2. Mogensen MA,
    3. Kim PE, et al

    . Clinical applications of diffusion tensor imaging. World Neurosurg 2014;82:96–109 doi:10.1016/j.wneu.2013.07.083 pmid:23916498

    CrossRefPubMed
28. 28.↵
    1. Schirmer MD,
    2. Giese AK,
    3. Fotiadis P, et al

    . Vascular territory template and atlases in MNI space. https://www.resilientbrain.org/data.html. Accessed May 5, 2024
29. 29.↵
    1. Schirmer MD,
    2. Giese AK,
    3. Fotiadis P, et al

    . Spatial signature of white matter hyperintensities in stroke patients. Front Neurol 2019;10:208 doi:10.3389/fneur.2019.00208 pmid:30941083

    CrossRefPubMed
30. 30.↵
    1. Koo TK,
    2. Li MY

    . A guideline of selecting and reporting intraclass correlation coefficients for reliability research. J Chiropr Med 2016;15:155–63 doi:10.1016/j.jcm.2016.02.012 pmid:27330520

    CrossRefPubMed
31. 31.↵
    1. Cocozza S,
    2. Russo C,
    3. Pisani A, et al

    . Redefining the pulvinar sign in Fabry disease. AJNR Am J Neuroradiol 2017;38:2264–69 doi:10.3174/ajnr.A5420 pmid:29051208

    Abstract/FREE Full Text
32. 32.↵
    1. Ortíz JF,
    2. Solís MB,
    3. Ali SS, et al

    . Pulvinar sign, stroke and their relationship with Fabry disease: a systematic review and metanalysis. Neurol Int 2022;14:497–505 doi:10.3390/neurolint14020041 pmid:35736622

    CrossRefPubMed
33. 33.↵
    1. Moore DF,
    2. Scott LT,
    3. Gladwin MT, et al

    . Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001;104:1506–12 doi:10.1161/hc3801.096352 pmid:11571244

    Abstract/FREE Full Text
34. 34.↵
    1. Hilz MJ,
    2. Kolodny EH,
    3. Brys M, et al

    . Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol 2004;251:564–70 doi:10.1007/s00415-004-0364-9 pmid:15164189

    CrossRefPubMed
35. 35.↵
    1. Schmitz BL,
    2. Aschoff AJ,
    3. Hoffmann MH, et al

    . Advantages and pitfalls in 3T MR brain imaging: a pictorial review. AJNR Am J Neuroradiol 2005;26:2229–37 pmid:16219827

    PubMedWeb of Science
36. 36.↵
    1. O’Connor JP,
    2. Aboagye EO,
    3. Adams JE, et al

    . Imaging biomarker roadmap for cancer studies. Nat Rev Clin Oncol 2017;14:169–86 doi:10.1038/nrclinonc.2016.162 pmid:27725679

    CrossRefPubMed
37. 37.↵
    1. Bu N,
    2. Churilov L,
    3. Khlif MS, et al

    . Early brain volume changes after stroke: subgroup analysis from the AXIS-2 trial. Front Neurol 2021;12:747343 doi:10.3389/fneur.2021.747343 pmid:35153972

    CrossRefPubMed
38. 38.↵
    1. Schirmer MD,
    2. Donahue KL,
    3. Nardin MJ, et al

    ; MRI-GENIE and GISCOME Investigators and the International Stroke Genetics Consortium. Brain volume: an important determinant of functional outcome after acute ischemic stroke. Mayo Clin Proc 2020;95:955–65 doi:10.1016/j.mayocp.2020.01.027 pmid:32370856

    CrossRefPubMed
39. 39.↵
    1. Moonen JE,
    2. Foster-Dingley JC,
    3. Van Den Berg-Huijsmans AA, et al

    . Influence of small vessel disease and microstructural integrity on neurocognitive functioning in older individuals: the DANTE study Leiden. AJNR Am J Neuroradiol 2017;38:25–30 doi:10.3174/ajnr.A4934 pmid:27659190

    Abstract/FREE Full Text
40. 40.↵
    1. Wang S,
    2. Zhang F,
    3. Huang P, et al

    . Superficial white matter microstructure affects processing speed in cerebral small vessel disease. Hum Brain Mapp 2022;43:5310–25 doi:10.1002/hbm.26004 pmid:35822593

    CrossRefPubMed
41. 41.↵
    1. Phyu P,
    2. Merwick A,
    3. Davagnanam I, et al

    . Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study. Neurology 2018;90:e1379–85 doi:10.1212/WNL.0000000000005330 pmid:29661900

    Abstract/FREE Full Text
42. 42.↵
    1. Lelieveld IM,
    2. Böttcher A,
    3. Hennermann JB, et al

    . Eight-year follow-up of neuropsychiatric symptoms and brain structural changes in Fabry disease. PLoS One 2015;10:e0137603 doi:10.1371/journal.pone.0137603 pmid:26340726

    CrossRefPubMed
43. 43.↵
    1. Fellgiebel A,
    2. Wolf DO,
    3. Kolodny E, et al

    . Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease. J Inherit Metab Dis 2012;35:363–67 doi:10.1007/s10545-011-9390-9 pmid:21932096

    CrossRefPubMed
44. 44.↵
    1. Baas KP,
    2. Everard AJ,
    3. Körver S, et al

    . Progressive changes in cerebral apparent diffusion values in Fabry disease: a 5-year follow-up MRI study. AJNR Am J Neuroradiol 2023;44:1157–64 doi:10.3174/ajnr.A8001 pmid:37770205

    Abstract/FREE Full Text
45. 45.↵
    1. Fox RJ,
    2. Sakaie K,
    3. Lee JC, et al

    . A validation study of multicenter diffusion tensor imaging: reliability of fractional anisotropy and diffusivity values. AJNR Am J Neuroradiol 2012;33:695–700 doi:10.3174/ajnr.A2844 pmid:22173748

    Abstract/FREE Full Text
46. 46.↵
    1. Cocozza S,
    2. Schiavi S,
    3. Pontillo G, et al

    . Microstructural damage of the cortico-striatal and thalamo-cortical fibers in Fabry disease: a diffusion MRI tractometry study. Neuroradiology 2020;62:1459–66 doi:10.1007/s00234-020-02497-7 pmid:32700105

    CrossRefPubMed
47. 47.↵
    1. Pasi M,
    2. Van Uden IW,
    3. Tuladhar AM, et al

    . White matter microstructural damage on diffusion tensor imaging in cerebral small vessel disease: clinical consequences. Stroke 2016;47:1679–84 doi:10.1161/STROKEAHA.115.012065 pmid:27103015

    FREE Full Text
48. 48.↵
    1. Pico F,
    2. Labreuche J,
    3. Gourfinkel-An I, et al

    ; GENIC Investigators. Basilar artery diameter and 5-year mortality in patients with stroke. Stroke 2006;37:2342–47 doi:10.1161/01.STR.0000236058.57880.03 pmid:16888278

    Abstract/FREE Full Text