نتایج جستجو برای: encephalomyelopathy

تعداد نتایج: 94  

2007
J. Kalita

In order to detect the range of neurological manifestations, patients with dengue virus infection admitted to neurology service were subjected to detailed clinical evaluation, i.e. blood counts, serum chemistry, electrolytes, creatine kinase (CK), magnetic resonance imaging (MRI), nerve conduction study (NCS) and electromyography (EMG). Out of 24 patients with dengue virus infection aged 5–65 y...

Journal: :The Western journal of medicine 1990
P S Dixon A J Bodner M Okihiro A Milbourne A Diwan J M Nakamura

Tropical spastic paraparesis or human T-lymphotropic virus type I (HTLV-I)-associated myelopathy is a degenerative encephalomyelopathy with pyramidal tract dysfunction affecting the lower extremities. It is associated with HTLV-I infection and found primarily in the Caribbean region and in southwestern Japan. Five cases of tropical spastic paraparesis (or HTLV-I-associated myelopathy) in Hawaii...

Journal: :Clinical chemistry 2011
Adam S Ptolemy Yijun Li Tamara Sanderson Omar Khwaja Gerard T Berry Mark Kellogg

A 9-month-old boy with a history of seizures underwent a neurologic and biochemical-genetic evaluation. The brain MRI results were compatible with a diagnosis of Leigh disease, also known as subacute necrotizing encephalomyelopathy, a rare neurometabolic disorder that affects the central nervous system. The patient had been prescribed several antiepileptic medications, including levetiracetam, ...

Journal: :Arquivos de neuro-psiquiatria 2010
Ursula Thomé Alexandre Fernandes Osvaldo José Moreira do Nascimento Marcos Raimundo Gomes de Freitas Marco Antônio Araujo Leite

Department of Neurology, Antonio Pedro University Hospital, Federal Fluminense University, Niterói RJ, Brazil: MD, Neuropediatrician, Student of Post-Graduation Program in Neurology and Neuroscience in Federal Fluminense University (UFF); MD, MSc, Neuropediatrician, Professor of Pediatrics in Federal Fluminense University (UFF); MD, PhD, FAAN, Neurologist, Chair in Neurology. Coordinator of the...

Journal: :Amyotrophic lateral sclerosis & frontotemporal degeneration 2013
Pam Factor-Litvak Ammar Al-Chalabi Alberto Ascherio Walter Bradley Adriano Chío Ralph Garruto Orla Hardiman Freya Kamel Edward Kasarskis Ann McKee Imaharu Nakano Lorene M Nelson Andrew Eisen

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease. The current status of the epidemiology, challenges to its study, and novel study design options are discussed in this paper. We focus on recent results from large-scale population based prospective studies, case-control studies and population based registries, risk factors, and neuropathologic findings in ch...

2011
Robert A. Stern David O. Riley Daniel H. Daneshvar Christopher J. Nowinski Robert C. Cantu

Chronic traumatic encephalopathy (CTE) has been linked to participation in contact sports such as boxing and American football. CTE results in a progressive decline of memory and cognition, as well as depression, suicidal behavior, poor impulse control, aggressiveness, parkinsonism, and, eventually, dementia. In some individuals, it is associated with motor neuron disease, referred to as chroni...

Journal: :Seizure 2012
Ayataka Fujimoto Tomohiro Yamazoe Takuya Yokota Hideo Enoki Yuki Sasaki Mitsuyo Nishimura Takamichi Yamamoto

Progressive myoclonic epilepsy (PME) is a group of disorders in which myoclonus is a major component. Patients with PME typically have generalized tonic–clonic or clonic seizures, mental retardation culminating in dementia, and a neurologic syndrome that almost always includes cerebellar dysfunction. It comprises a heterogeneous group of inherited disorders. Conditions inwhich PME is seen inclu...

Journal: :Human molecular genetics 1997
M Munaro V Tiranti D Sandonà E Lamantea G Uziel R Bisson M Zeviani

A generalized defect of complex IV (cytochrome C oxidase, COX) is frequently found in subacute necrotizing encephalomyelopathy (Leigh's syndrome), the most common mitochondrial disorder in infancy. We previously demonstrated the nuclear origin of the COX defect in one case, by fusing nuclear DNA-less cytoplasts derived from normal fibroblasts with mitochondrial DNA (mtDNA)-less transformant fib...

2007
F. A. HOMMES H. A. POLMAN J. D. REERINK

In 1951 Leigh described a condition which is now known as subacute necrotizing encephalomyelopathy. Ebels, Blokzijl, and Troelstra (1965) have summarized findings in 28 of these patients, all of whom died. Since then 6 further cases have been described by Worsley et al. (1965), Namiki (1965), Lakke, Ebels, and ten Thye (1967), and Clayton, Dobbs, and Patrick (1967). The metabolic background of ...

Journal: :JAMA 2014
Robert W Taylor Angela Pyle Helen Griffin Emma L Blakely Jennifer Duff Langping He Tania Smertenko Charlotte L Alston Vivienne C Neeve Andrew Best John W Yarham Janbernd Kirschner Ulrike Schara Beril Talim Haluk Topaloglu Ivo Baric Elke Holinski-Feder Angela Abicht Birgit Czermin Stephanie Kleinle Andrew A M Morris Grace Vassallo Grainne S Gorman Venkateswaran Ramesh Douglass M Turnbull Mauro Santibanez-Koref Robert McFarland Rita Horvath Patrick F Chinnery

IMPORTANCE Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain complex defects are particularly difficult to diagnose at the molecular level because of the massive number of nuclear genes potentially involved in intramitochondrial protein synthesis, with many not yet linked to human disease. OBJECTIVE...

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