The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. Clinical features are usually extremely heterogeneous because MD may involve several tissues with different degrees of severity. Muscle and brain are mostly affected, probably because of their high dependence on oxidative metabolism. Muscle can be the only affected tissue or involved ...

Our study demonstrates that ischemia-reperfusion brain injury induces an increase in blood-brain barrier (BBB) permeability in the periventricular white matter. This chronic insufficiency of BBB may allow entry of neurotoxic fragments of amyloid precursor protein (APP) and other blood components such as platelets into the perineurovascular white matter tissue. These components may have secondar...

BACKGROUND AND PURPOSE The T1-weighted fast spin-echo (T1-FSE) MR imaging sequence is not used routinely, since the speed advantage is not as dramatic as it is in T2-weighted imaging. We evaluated the T1-FSE sequence to determine whether this technique can replace the conventional T1-weighted spin-echo (T1-SE) sequence for routine contrast-enhanced imaging. METHODS Sixty-nine patients with in...

Background Individuals with cerebral small vessel disease (CSVD) usually have both periventricular and deep white matter hyperintensities (dpWMH). However, we often encounter individuals whose WMH lesions are mainly located in the corticomedullary or minimal WMHs (dWMH). We aimed to determine if dWMH pattern could be attributed embolic etiologies. Methods retrospectively recruited participants ...

BACKGROUND White matter hyperintensities (WMH) are commonly observed MRI abnormalities in the elderly, which generally reflect covert vascular brain injury. WMH cumulatively produce substantial neurologic, psychiatric, and medical morbidity. This review provides an overview of current knowledge on vascular WMH, and describes some pharmacological agents that may have a role in mitigating this co...

As a group, people with the sex chromosome aneuploidy 49,XXXXY have characteristic physical and cognitive/behavioral tendencies, although there is high individual variation. In this study we use magnetic resonance imaging (MRI) to examine brain morphometry in 14 youth with 49,XXXXY compared to 42 age-matched healthy controls. Total brain size was significantly smaller (t=9.0, p<.001), and rates...

A 54-year-old woman with a history of alcoholism presented with stupor. Brain MRI disclosed extensive callosal and widespread extracallosal white matter and cortical lesions (figure) suggestive of MarchiafavaBignami disease (MBD). After 4 weeks of treatment with thiamine and corticosteroids, a complete resolution of brain MRI lesions along with a good clinical recovery was observed. In MBD, whi...

BINSWANGER'S disease (BD) is characterized by cerebrovascular lesions in the hemispheral white matter. Interest in BD has been stimulated recently by reports of low density in the periventricular white matter on computerized tomography (CT) and magnetic resonance imaging (MRI) in elderly patients with dementia. This radiographic appearance also is common in asymptomatic patients. To better defi...

BACKGROUND Anti-N-methyl-D-aspartate receptor encephalitis is a severe autoimmune disorder characterized by severe psychiatric symptoms, seizures, decreased consciousness, autonomic dysregulation, and dyskinesias. Multifocal subcortical white matter lesions on fluid-attenuated inversion recovery and diffuse weighted images have rarely been reported in previous literature, and serial magnetic re...