Anderson-Fabry Disease

Kolodny, Edwin H.; Pastores, Gregory M.

doi:10.1097/01.asn.0000015239.57436.18

Cited by 65 publications

(60 citation statements)

References 34 publications

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“…Fabry disease accounts for cerebrovascular symptoms in relatively young men as well as heterozygous women [12]. The average age at the onset of cerebrovascular complications is 34 years in male Fabry patients and 40 years in female "carriers" of the genetic defect [12].…”

Section: Discussionmentioning

confidence: 99%

“…The average age at the onset of cerebrovascular complications is 34 years in male Fabry patients and 40 years in female "carriers" of the genetic defect [12]. According to Mitsias and Levine, the rarity of Fabry disease -with an estimated incidence of about 1 in 40,000 males [6] -does not allow an exact estimation of the overall incidence of cerebrovascular complications [14].…”

Section: Discussionmentioning

confidence: 99%

“…MacDermot et al observed transitory ischemic attacks or "cerebrovascular accidents" in 24 % of a cohort of 70 Fabry patients [13]. The prevalence and severity of cerebrovascular complications increase with patients' age [12].According to Kolodny and Pastores, the presence of cerebrovascular disease indicates a poor prognosis with a high likelihood of recurrence or death for hemizygous (76 %) as well as heterozygous (55 %) patients [12].…”

Section: Discussionmentioning

confidence: 99%

“…The pathophysiology of cerebrovascular complications of Fabry disease is not yet fully understood [6,12,15]. Small vessel stenosis and obstruction, endothelial dysfunction, impaired cerebral glucose metabolism, increased platelet reactivity or altered cerebrovascular reactivity due to autonomic dysfunction have been considered to be among the pathogenetic factors of thrombotic and ischemic brain infarctions in Fabry disease [12].…”

Section: Discussionmentioning

confidence: 99%

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Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease

Hilz

Kolodny

Bryś

et al. 2004

Journal of Neurology

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In Fabry disease, there is glycosphingolipid storage in vascular endothelial and smooth muscle cells and neurons of the autonomic nervous system. Vascular or autonomic dysfunction is likely to compromise cerebral blood flow velocities and cerebral autoregulation. This study was performed to evaluate cerebral blood flow velocities and cerebral autoregulation in Fabry patients. In 22 Fabry patients and 24 controls, we monitored resting respiratory frequency, electrocardiographic RR-intervals, blood pressure, and cerebral blood flow velocities (CBFV) in the middle cerebral artery using transcranial Doppler sonography. We assessed the Resistance Index, Pulsatility Index, Cerebrovascular Resistance, and spectral powers of oscillations in RR-intervals, mean blood pressure and mean CBFV in the high (0.15-0.5 Hz) and sympathetically mediated low frequency (0.04-0.15 Hz) ranges using autoregressive analysis. Cerebral autoregulation was determined from the transfer function gain between the low frequency oscillations in mean blood pressure and mean CBFV. Mean CBFV (P < 0.05) and the powers of mean blood pressure (P < 0.01) and mean CBFV oscillations (P < 0.05) in the low frequency range were lower,while RR-intervals, Resistance Index (P < 0.01), Pulsatility Index, Cerebrovascular Resistance (P < 0.05), and the transfer function gain between low frequency oscillations in mean blood pressure and mean CBFV (P < 0.01) were higher in patients than in controls. Mean blood pressure, respiratory frequency and spectral powers of RR-intervals did not differ between the two groups (P > 0.05). The decrease of CBFV might result from downstream stenoses of resistance vessels and dilatation of the insonated segment of the middle cerebral artery due to reduced sympathetic tone and vessel wall pathology with decreased elasticity. The augmented gain between blood pressure and CBFV oscillations indicates inability to dampen blood pressure fluctuations by cerebral autoregulation. Both, reduced CBFV and impaired cerebral autoregulation, are likely to be involved in the increased risk of stroke in patients with Fabry disease.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease

Hilz

Kolodny

Bryś

et al. 2004

Journal of Neurology

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“…In cranial MRI cerebral white matter lesions (WMLs) are frequent findings in FD [12]. Moreover, the WMLs load increases with age in FD [10].…”

Section: Introductionmentioning

confidence: 99%

Pattern of microstructural brain tissue alterations in Fabry disease

Fellgiebel¹,

Mazanek

Whybra³

et al. 2006

J Neurol

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Fabry disease (FD) is a lysosomal storage disorder that is associated with marked cerebrovascular disease. Conventional MRI shows a progressive load of white matter lesions (WMLs) due to cerebral vasculopathy in the course of FD. To quantify brain structural changes in clinically affected male and female patients with FD we performed a prospective Diffusion-Tensor Imaging (DTI) study in 27 adult Fabry patients (13m, 14f) and 21 age-matched controls (12 m, 9f). Global Mean Diffusivity (MD) was increased in FD (P = 0.003) whereas global Fractional Anisotropy (FA) did not differ significantly between FD and controls. Even FD patients without significant WMLs (9m, 9f) showed increased global MD (P = 0.004). Regions of interest with significant MD elevations were located in the frontal, parietal and temporal white matter. No differences of thalamic and hippocampal DTI measurements could be detected between FD and controls. DTI parameters did not differ between male and female patients. The data provide the first evidence of a pattern of marked structural brain tissue alterations in adult FD male and female patients even without WMLs. DTI seems to be an appropriate diagnostic tool to quantify brain tissue integrity in FD. Moreover, this method could be favorable for longitudinal assessment of brain structure alterations in FD, and for monitoring the cerebral effects of enzyme replacement therapy.

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