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Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis. Deficiency of(More)
Benign macrocephaly of infancy is a common problem in the child neurology practice. The radiologic features of this entity are not well defined. In most of the previous studies, macrocephalic patients were evaluated by computed tomography. To define the radiologic characteristics of this entity, 20 children with macrocephaly with normal neurologic(More)
Eukaryotic initiation factor 2B (eIF2B)-related disorders are heritable white matter disorders with a variable clinical phenotype (including vanishing white matter disease and ovarioleukodystrophy) and an equally heterogeneous genotype. We report 9 novel mutations in the EIF2B genes in our subject population, increasing the number of known mutations to more(More)
MR imaging criteria for diagnosing acute disseminated encephalomyelitis (ADEM) have not been clearly established. Due to the wide spectrum of differential considerations, new imaging features allowing early and accurate diagnosis for ADEM are needed. We hypothesized that ADEM lesions would be characterized by vasogenic edema due to the potential(More)
Acute disseminated encephalomyelitis is an immune-mediated inflammatory and demyelinating disorder of the central nervous system, commonly preceded by an infection. It principally involves the white matter tracts of the cerebral hemispheres, brainstem, optic nerves, and spinal cord. Acute disseminated encephalomyelitis mainly affects children. Clinically,(More)
We describe a case of listerial rhombencephalitis in a previously healthy 40-year-old man. The diagnosis was based on the clinical findings, results of cerebrospinal fluid analysis, blood culture, and MR imaging findings. The treatment was started before culture results were available, and the patient had a full clinical recovery.
The present study evaluated the effect of dietary vitamin E supplementation (1,000 mg/kg chow) on the alterations in vascular reactivity of streptozotocin-diabetic aorta of Wistar rats. After 12 weeks of treatment, thoracic aortic rings of rats were mounted in organ baths and contractile responses to phenylephrine and 5-hydroxytryptamine and relaxant(More)
The aim of this study was to compare the characteristics of the first demyelinating event between acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS). Children with acute demyelinating disease of the central nervous system and an abnormal brain magnetic resonance image (MRI) were studied. Patients were assigned a final diagnosis after(More)
BACKGROUND Recognizing the cause of optic neuritis (ON) affects treatment decisions and visual outcomes. OBJECTIVE We aimed to define radiological features of first-episode demyelinating ON. METHODS We performed blinded radiological assessment of 50 patients presenting with first-episode myelin oligodendrocyte glycoprotein (MOG) antibody-associated ON(More)
Behçet's disease is a chronic, relapsing multisystem disorder, and nervous system involvement is one of the serious manifestations. Neuro-Behçet is rarely reported in children and may present with a wide variety of symptoms because the entire neuraxis may be affected. A case of cerebral vein thrombosis secondary to Behçet's disease is presented. The patient(More)