Results 31 to 40 of about 48,917 (272)
Анналы клинической и экспериментальной неврологии, 2017 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described familial form of ischemic stroke caused by mutations in the Notch3 gene on chromosome 19q12.
S. N. Illarioshkin +5 more
doaj +1 more source
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
Frontiers in Neurology, 2023 Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age ...
Karthik Muthusamy +9 more
doaj +1 more source
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]
, 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Bax, BE +9 more
core +3 more sources
NIHSS Scores in Ischemic Small Vessel Disease: A Study in CADASIL [PDF]
, 2012 Background: The National Institutes of Health Stroke Scale (NIHSS) is widely used to measure neurological deficits, evaluate the effectiveness of treatment and predict outcome in acute ischemic stroke.
Allili, Nassira +6 more
core +1 more source
Clinical Case Reports, 2020 A growth in recreational drug use will lead to a rise in delayed posthypoxic leukoencephalopathy cases. Physicians may inadvertently misdiagnose this rare condition as a primary psychiatric disorder by not maintaining a broad differential diagnosis.
Kara Kaplan +4 more
doaj +1 more source
Natalizumab affects T-cell phenotype in multiple sclerosis: implications for JCV reactivation [PDF]
, 2016 The anti-CD49d monoclonal antibody natalizumab is currently an effective therapy against the relapsing-remitting form of multiple sclerosis (RRMS). Natalizumab therapeutic efficacy is limited by the reactivation of the John Cunningham polyomavirus (JCV ...
A Bellizzi +51 more
core +3 more sources
Acta Médica Portuguesa, 2015 Introduction: Progressive multifocal leukoencephalopathy is a demyelinating disease of the central nervous system caused by John Cunningham virus, mostly associated with immunodeficiency conditions, such as the human immunodeficiency virus infection ...
Luís Augusto +4 more
doaj +1 more source
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
, 2018 Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
core +1 more source
Анналы клинической и экспериментальной неврологии, 2020 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) on magnetic resonance spectroscopy is a rare and little-known form of hereditary leukoencephalopathy, a significant portion of which is probably obscured by the ...
Alexander Yu. Kazantsev +1 more
doaj +1 more source
Consensus definitions of 14 severe acute toxic effects for childhood lymphoblastic leukaemia treatment: a Delphi consensus [PDF]
, 2016 Although there are high survival rates for children with acute lymphoblastic leukaemia, their outcome is often counterbalanced by the burden of toxic effects.
Attarbaschi, Andishe +20 more
core +2 more sources