Brain MRI findings in patients with Fabry disease

Reisin, Ricardo; Romero, Carlos; Marchesoni, Cintia; Nápoli, Gabriel; Kisinovsky, Isaac; Cáceres, Guillermo; Sevlever, Gustavo

doi:10.1016/j.jns.2011.03.020

Cited by 62 publications

(63 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…78 In children with FD, lesions, if present, are mostly minimal. 13 CWMH load has been found to be similar in male and female Fabry patients, 79 and the regional distribution of CWMH in patients with FD is comparable with that seen in normal aging and in hypertensive patients, particularly in the periventricular area. 78 Furthermore, the load of white matter lesions may mimic the appearance of multiple sclerosis; therefore, a careful differential diagnosis should be performed.…”

Section: Chronic White Matter Hyperintensitiesmentioning

confidence: 53%

“…Although ischemic strokes and transient ischemic attacks are the most prevalent types of overt cerebrovascular events in FD, 10 cases of intracerebral hemorrhages, 11 subarachnoid hemorrhage, 12 microbleeds, 13 cerebral venous thrombosis, 14 and cervical carotid dissection 15 have also been reported. To our knowledge, no cases of vertebral dissection or spinal cord infarction have been documented in the literature to date.…”

Section: Cerebral Manifestations Of Fdmentioning

confidence: 99%

“…Standard CNS imaging modalities include computed tomography (CT) and MRI (Table 2). 13,88,126,[130][131][132] Contrast media are usually not required. The MRI protocol should include: T1-weighted; fluid attenuated inversion recovery/T2-weighted; T2*/susceptibility; and diffusion-weighted imaging sequences.…”

Section: Neuroimaging Techniques In Patients With Fdmentioning

confidence: 99%

“…Currently, many asymptomatic Fabry patients are not being monitored regularly, but increasing awareness of the importance of silent infarcts and other stroke risk factors from the general stroke population should encourage neurologists to monitor Fabry patients for signs of early CNS involvement periodically, at least on a clinical basis, using appropriate imaging studies when indicated (Table 2). 13,88,126,[130][131][132] Other imaging techniques, such as DTI and 3-dimensional T1-acquisition, are not used as routine investigations for patients with FD, but can provide useful clinical information (Table 2). 13,88,126,[130][131][132] Of note, voxel-based analysis of DTI images has been shown to be an investigator-independent and sensitive tool for evaluating early white matter injury in patients with FD, allowing direct comparison with control subjects.…”

Section: Neuroimaging Techniques In Patients With Fdmentioning

confidence: 99%

“…13,88,126,[130][131][132] Other imaging techniques, such as DTI and 3-dimensional T1-acquisition, are not used as routine investigations for patients with FD, but can provide useful clinical information (Table 2). 13,88,126,[130][131][132] Of note, voxel-based analysis of DTI images has been shown to be an investigator-independent and sensitive tool for evaluating early white matter injury in patients with FD, allowing direct comparison with control subjects. 81,131 These techniques may have value in longitudinal studies of disease progression or treatment effects.…”

Section: Neuroimaging Techniques In Patients With Fdmentioning

confidence: 99%

See 4 more Smart Citations

Cerebrovascular Involvement in Fabry Disease

Kolodny

Fellgiebel

Hilz

et al. 2015

Stroke

148

156

View full text Add to dashboard Cite

Section: Chronic White Matter Hyperintensitiesmentioning

confidence: 53%

Section: Cerebral Manifestations Of Fdmentioning

confidence: 99%

Section: Neuroimaging Techniques In Patients With Fdmentioning

confidence: 99%

Section: Neuroimaging Techniques In Patients With Fdmentioning

confidence: 99%

Section: Neuroimaging Techniques In Patients With Fdmentioning

confidence: 99%

See 3 more Smart Citations

Cerebrovascular Involvement in Fabry Disease

Kolodny

Fellgiebel

Hilz

et al. 2015

Stroke

148

156

View full text Add to dashboard Cite

Neuroimaging of lipid storage disorders

Rieger

Auerbach

Robinson

et al. 2013

Dev Disabil Res Revs

View full text Add to dashboard Cite

Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation in various cell types, including the central nervous system, because of the deficiency of a variety of enzymes. Over time, excessive storage can cause permanent cellular and tissue damage. The brain is particularly sensitive to lipid storage as the contents of the central nervous system must occupy uniform volume, and any increases in fluids or deposits will lead to pressure changes and interference with normal neurological function. In addition to primary lipid storage diseases, lysosomal storage diseases include the mucolipidoses (in which excessive amounts of lipids and carbohydrates are stored in the cells and tissues) and the mucopolysaccharidoses (in which abnormal glycosylated proteins cannot be broken down because of enzyme deficiency). Neurological dysfunction can be a manifestation of these conditions due to substrate deposition as well. This review will explore the modalities of neuroimaging that may have particular relevance to the study of the lipid storage disorder and their impact on elucidating aspects of brain function. First, the techniques will be reviewed. Next, the neuropathology of a few selected lipid storage disorders will be reviewed and the use of neuroimaging to define disease characteristics discussed in further detail. Examples of studies using these techniques will be discussed in the text.

show abstract

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

Linhart

Germain

Olivotto

et al. 2020

European J of Heart Fail

147

119

View full text Add to dashboard Cite

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the-galactosidase A (GLA) gene that leads to reduced or undetectable-galactosidase A enzyme activity and progressive accumulation of globotriaosylceramide and its deacylated form globotriaosylsphingosine in cells throughout the body. FD can be multisystemic with neurological, renal, cutaneous and cardiac involvement or be limited to the heart. Cardiac involvement is characterized by progressive cardiac hypertrophy, fibrosis, arrhythmias, heart failure and sudden cardiac death. The cardiac management of FD requires specific measures including enzyme replacement therapy or small pharmacological chaperones in patients carrying amenable pathogenic GLA gene variants and more general management of cardiac symptoms and complications. In this paper, we summarize current knowledge of FD-related heart disease and expert consensus recommendations for its management.

show abstract

Brain MRI findings in patients with Fabry disease

Cited by 62 publications

References 33 publications

Cerebrovascular Involvement in Fabry Disease

Cerebrovascular Involvement in Fabry Disease

Neuroimaging of lipid storage disorders

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

Contact Info

Product

Resources

About