Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

<p>Abstract</p> <p>Background</p> <p>Fabry disease is a lysosomal X-linked enzyme deficiency of α-galactosidase A associated with an increased mortality and morbidity due to renal failure, cardiac disease and early onset stroke.</p> <p>Methods</p> <...

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Main Authors: Herscovitch Peter, Schiffmann Raphael, Altarescu Gheona, Moore David F
Format: Article
Language:English
Published: BMC 2002-06-01
Series:BMC Neurology
Online Access:http://www.biomedcentral.com/1471-2377/2/4
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spelling doaj-31bd220dee504a97ab49c970985eaf712020-11-25T00:20:36ZengBMCBMC Neurology1471-23772002-06-0121410.1186/1471-2377-2-4Enzyme replacement reverses abnormal cerebrovascular responses in Fabry diseaseHerscovitch PeterSchiffmann RaphaelAltarescu GheonaMoore David F<p>Abstract</p> <p>Background</p> <p>Fabry disease is a lysosomal X-linked enzyme deficiency of α-galactosidase A associated with an increased mortality and morbidity due to renal failure, cardiac disease and early onset stroke.</p> <p>Methods</p> <p>We examined the functional blood flow response of the brain after visual stimulation (reversing checkerboard pattern), and cerebral vasoreactivity following acetazolamide (15 mg/kg) with [<sup>15</sup>O]H<sub>2</sub>O and positron emission tomography (PET) in Fabry disease. Twenty-six hemizygous patients (age range 19–47 years) were enrolled in a randomized double-blind placebo-controlled 6-month trial of enzyme replacement therapy administered by intravenous infusion every two weeks. Regional cerebral blood flow (rCBF) was measured with PET at the beginning and end of the trial.</p> <p>Results</p> <p>Fabry patients had a significantly greater increase in rCBF following visual stimulation and acetazolamide challenge compared to controls. Visual reactivity was normal. The time for recovery of the cerebral vasculature following acetazolamide was prolonged in Fabry patients compared to controls. The abnormal rCBF response induced by visual stimulation and acetazolamide decreased significantly following enzyme replacement therapy, as did the prolonged recovery of the cerebral vasculature.</p> <p>Conclusions</p> <p>Enzyme replacement therapy reverses the exaggerated cerebrovascular response in Fabry disease.</p> http://www.biomedcentral.com/1471-2377/2/4
collection DOAJ
language English
format Article
sources DOAJ
author Herscovitch Peter
Schiffmann Raphael
Altarescu Gheona
Moore David F
spellingShingle Herscovitch Peter
Schiffmann Raphael
Altarescu Gheona
Moore David F
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
BMC Neurology
author_facet Herscovitch Peter
Schiffmann Raphael
Altarescu Gheona
Moore David F
author_sort Herscovitch Peter
title Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
title_short Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
title_full Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
title_fullStr Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
title_full_unstemmed Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
title_sort enzyme replacement reverses abnormal cerebrovascular responses in fabry disease
publisher BMC
series BMC Neurology
issn 1471-2377
publishDate 2002-06-01
description <p>Abstract</p> <p>Background</p> <p>Fabry disease is a lysosomal X-linked enzyme deficiency of α-galactosidase A associated with an increased mortality and morbidity due to renal failure, cardiac disease and early onset stroke.</p> <p>Methods</p> <p>We examined the functional blood flow response of the brain after visual stimulation (reversing checkerboard pattern), and cerebral vasoreactivity following acetazolamide (15 mg/kg) with [<sup>15</sup>O]H<sub>2</sub>O and positron emission tomography (PET) in Fabry disease. Twenty-six hemizygous patients (age range 19–47 years) were enrolled in a randomized double-blind placebo-controlled 6-month trial of enzyme replacement therapy administered by intravenous infusion every two weeks. Regional cerebral blood flow (rCBF) was measured with PET at the beginning and end of the trial.</p> <p>Results</p> <p>Fabry patients had a significantly greater increase in rCBF following visual stimulation and acetazolamide challenge compared to controls. Visual reactivity was normal. The time for recovery of the cerebral vasculature following acetazolamide was prolonged in Fabry patients compared to controls. The abnormal rCBF response induced by visual stimulation and acetazolamide decreased significantly following enzyme replacement therapy, as did the prolonged recovery of the cerebral vasculature.</p> <p>Conclusions</p> <p>Enzyme replacement therapy reverses the exaggerated cerebrovascular response in Fabry disease.</p>
url http://www.biomedcentral.com/1471-2377/2/4
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AT altarescugheona enzymereplacementreversesabnormalcerebrovascularresponsesinfabrydisease
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