Magnetic resonance image findings in 5 young patients with Fabry disease

The Neurologist
Juan M Politei, Aristides A Capizzano

Abstract

Fabry disease is an X-linked recessive lysosomal storage disease; it is due to alpha-galactosidase A deficiency, and its clinical course shows repeated small artery strokes. Five patients diagnosed with Fabry disease (mean age +/- SD = 28.2 +/- 11.1 years) and 5 age-matched controls were evaluated with the following magnetic resonance image (MRI) sequences: T1, T2, FLAIR, diffusion, and single voxel spectroscopy at the parietal lobe. Conventional images did not reveal alterations. Mean apparent diffusion coefficient (ADC) +/- SD in the corona radiata of patients was 7.8 +/- 0.2 x 10 mm/s, which was significantly higher than for controls: 6.93 +/- 0.49 x 10 mm/s (P < 0.05). At the lenticular nucleus there were no differences in ADC values between patients (7.32 +/- 0.2 x 10 mm/s) and controls (7.2 +/- 0.2 x 10 mm/s). The mean ratio NAA/Cr +/- SD at the parietal lobes was 1.94 +/- 0.2 for patients and 2.1 +/- 0.13 for controls (P = n.s.). : In a group of young Fabry disease patients with normal MRIs, a significant increment of over 12% in ADC values in the corona radiata was found compared with age-matched controls. The change could reflect increased interstitial water content after the Starling equilibrium under raised cerebral ...Continue Reading

References

Jan 1, 1989·Neuroscience and Biobehavioral Reviews·D L Birken, W H Oldendorf
May 25, 1967·The New England Journal of Medicine·R O BradyL Laster
Jul 1, 1996·Annals of Neurology·P Mitsias, S R Levine
Jun 20, 1998·Neurology·K E CrutchfieldR Schiffmann
Apr 27, 2001·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·N SchuffM W Weiner
Feb 8, 2003·Acta Paediatrica. Supplement·D F MooreA M Ulug

❮ Previous
Next ❯

Citations

Nov 1, 2011·Journal of Neurology·Miguel Viana-Baptista
Apr 16, 2008·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Riki Okeda, Masahiro Nisihara
Apr 24, 2007·Journal of Neurology, Neurosurgery, and Psychiatry·J AlbrechtA Fellgiebel
Nov 12, 2013·BMC Neurology·Tomás SeguraJosé Vivancos
Aug 7, 2013·Orphanet Journal of Rare Diseases·Frank WeidemannAlberto Ortiz
Feb 16, 2013·Genetics and Molecular Biology·Taciane AlegraIda V D Schwartz
Mar 17, 2010·European Journal of Radiology·S GruberO Bodamer
Mar 30, 2007·Acta Paediatrica. Supplement·Andreas FellgiebelMatthias J Müller
Aug 18, 2006·Lancet Neurology·Andreas FellgiebelLionel Ginsberg
May 11, 2016·Neurology·Natalia S RostKatherine B Sims
Jan 23, 2017·La Radiologia medica·Simona GaudinoCesare Colosimo
Nov 6, 2018·Insights Into Imaging·Sirio CocozzaArturo Brunetti
Aug 7, 2020·AJR. American Journal of Roentgenology·David DoigKshitij Mankad

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.