Fabry Disease

Politei, Juan

doi:10.1007/978-3-319-76148-0_4

Cited by 3 publications

(4 citation statements)

References 182 publications

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“…Stroke recurrence in patients with FD, with and without ERT, has been reported . There was strong consensus that there was no clear evidence that ERT reduced stroke risk in FD.…”

Section: Resultsmentioning

confidence: 99%

“…Many different cell types are involved in FD, including vascular cells (endothelial cells and vascular smooth muscle cells), cardiomyocytes, renal cells, enteric neurons and nerve cells . Therefore, heart, kidney, brain, peripheral nervous system and the gastrointestinal system are heavily involved in the disease .…”

Section: Resultsmentioning

confidence: 99%

“…The classic forms exhibit early manifestations, whereas later‐onset forms (type 2) can present clinical signs later in life. About 900 variants, most of them private, have been reported . FD is a lysosomal storage disease, due to accumulation of the sphingolipid globotriaosylceramide (GL‐3 or Gb3) and its deacetylated derivative lyso‐globotriaosylceramide (lyso‐GL‐3 or lyso‐Gb3).…”

Section: Resultsmentioning

confidence: 99%

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Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

Mancuso

Arnold

Bersano

et al. 2020

Euro J of Neurology

123

115

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Background and purpose Guidelines on monogenic cerebral small‐vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on selected monogenic cSVDs, i.e. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), autosomal dominant High Temperature Requirement A Serine Peptidase 1 (HTRA1), cathepsin‐A‐related arteriopathy with strokes and leukoencephalopathy (CARASAL), pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL), Fabry disease, mitochondrial encephalopathy, lactic acidosis and stroke‐like episodes (MELAS) and type IV collagen (COL4)A1/2. Methods We followed the Delphi methodology to provide recommendations on several unanswered questions related to monogenic cSVD, including genetic testing, clinical and neuroradiological diagnosis, and management. Results We have proposed ‘red‐flag’ features suggestive of a monogenic disease. General principles applying to the management of all cSVDs and specific recommendations for the individual forms of monogenic cSVD were agreed by consensus. Conclusions The results provide a framework for clinicians involved in the diagnosis and management of monogenic cSVD. Further multicentre observational and treatment studies are still needed to increase the level of evidence supporting our recommendations.

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“…Stroke recurrence in patients with FD, with and without ERT, has been reported . There was strong consensus that there was no clear evidence that ERT reduced stroke risk in FD.…”

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

Mancuso

Arnold

Bersano

et al. 2020

Euro J of Neurology

123

115

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“…In adulthood, the patients can show severe involvement of kidney, heart, central nervous (mainly cerebrovascular disease) and peripheral nervous system. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements, with a different degree of clinical severity, in adulthood [ 4 , 5 ]. The clinical manifestations in female heterozygotes also depend on the X-chromosome random inactivation that increases the phenotypic variability [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Newborn Screening for Fabry Disease: Current Status of Knowledge

Gragnaniello,

Burlina,

Commone

et al. 2023

IJNS

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Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthood. Unfortunately, the diagnosis is often delayed until the organ damage is already irreversibly severe, making specific treatments less efficacious. For this reason, in the last two decades, newborn screening has been implemented to allow early diagnosis and treatment. This became possible with the application of the standard enzymology fluorometric method to dried blood spots. Then, high-throughput multiplexable assays, such as digital microfluidics and tandem mass spectrometry, were developed. Recently DNA-based methods have been applied to newborn screening in some countries. Using these methods, several newborn screening pilot studies and programs have been implemented worldwide. However, several concerns persist, and newborn screening for Fabry disease is still not universally accepted. In particular, enzyme-based methods miss a relevant number of affected females. Moreover, ethical issues are due to the large number of infants with later onset forms or variants of uncertain significance. Long term follow-up of individuals detected by newborn screening will improve our knowledge about the natural history of the disease, the phenotype prediction and the patients’ management, allowing a better evaluation of risks and benefits of the newborn screening for Fabry disease.

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Fabry Disease

Burlina

2024

Stroke Genetics

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Fabry Disease

Cited by 3 publications

References 182 publications

Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

Newborn Screening for Fabry Disease: Current Status of Knowledge

Fabry Disease

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