A 40-year-old male with recent-onset idiopathic thrombotic thrombocytopenic purpura (TTP) developed focal transient neurological findings lasting for several hours, remitting, then recurring in a different pattern. Brain magnetic resonance imaging (MRI) was consistent with a posterior leukoencephalopathy and electroencephalography demonstrated lateralized slowing during an episode. No acute isc...

Hypomyelinating leukodystrophies: Translational research progress and prospects. pg. 5-19 Pouwels, Petra J. W. PhD 1; Vanderver, Adeline MD 2; Bernard, Genevieve MD, MSc, FRCPC 3; Wolf, Nicole I. MD, PhD 4; Dreha-Kulczewksi, Steffi F. MD 5; Deoni, Sean C. L. PhD 6; Bertini, Enrico MD, PhD 7; Kohlschutter, Alfried MD 8; Richardson, William FMedSci, FRS 9; ffrench-Constant, Charles PhD 9; Kohler,...

Hypomyelinating leukodystrophy (HLD) is genetic demyelinating or dysmyelinating disease and is associated with at least 13 responsible genes. The mutations seem likely cause the functional deficiency of their gene products. HLD4- and HLD5-associated HSPD1 and FAM126A mutations affect biochemical properties of the gene products (Miyamoto et al. (2015,2014) [[1], [2]]). Herein we provide the data...

Thirty-one (16 women, 15 men; mean age 68 years) of 1,000 consecutive patients with an ischemic stroke investigated systematically with computed tomography (CT), Doppler, electrocardiography (ECG), and biological tests had a diffuse hypodensity of the cerebral hemispheric white matter on CT, a sign indicative of leukoencephalopathy. In 25 of the 31 patients, the acute infarct was deep. Leukoenc...

OBJECTIVE To identify safety signals concerning the association between the use of various drug classes and the onset of progressive multifocal leukoencephalopathy (PML). METHODS All reports containing suspected or interacting PML-related or leukoencephalopathy-related drugs, held in the World Health Organization spontaneous individual case safety reports database as at 1 September 2014, were...

PURPOSE To evaluate the incidence of leukoencephalopathy after whole-brain radiation therapy (WBRT) in patients with brain metastases. METHODS AND MATERIALS We retrospectively reviewed 111 patients who underwent WBRT for brain metastases from April 2001 through March 2008 and had evaluable computed tomography (CT) and/or magnetic resonance imaging (MRI) at least 1 month after completion of WB...

Proton magnetic resonance spectroscopy (MRS) allows the noninvasive exploration of tissue metabolism in vivo, providing neurophysiological and neurochemical information. N-acetylaspartate (NAA) is generally considered to be a marker of neurons and axons, and many neurodegenerative disorders, including demyelinating disorders, exhibit a decrease in total NAA (tNAA). MRS in human hypomyelination ...

BACKGROUND Deficiency of complex II (succinate dehydrogenase, SDH) represents a rare cause of mitochondrial disease and is associated with a wide range of clinical symptoms. Recently, mutations of SDHAF1, the gene encoding for the SDH assembly factor 1, were reported in SDH-defective infantile leukoencephalopathy. Our goal was to identify SDHAF1 mutations in further patients and to delineate th...