Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Mar 2014
ReviewA guide to diagnosis and treatment of Leigh syndrome.
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported. Since its first description by Denis Archibald Leigh in 1951, it has evolved from a postmortem diagnosis, strictly defined by histopathological observations, to a clinical entity with indicative laboratory and radiological findings. ⋯ Moreover, dysfunctions in pyruvate dehydrogenase complex or coenzyme Q10 metabolism may be associated with Leigh syndrome. To date, there is no cure for affected patients, and treatment options are mostly unsatisfactory. Here, we review the most important clinical aspects of Leigh syndrome, and discuss diagnostic steps as well as treatment options.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2014
Immune reactivity to neurofilament proteins in the clinical staging of amyotrophic lateral sclerosis.
Neurofilament (NF) proteins detection in biological fluids as a by-product of axonal loss is technically challenging and to date relies mostly on cerebrospinal fluid (CSF) measurements. Plasma antibodies against NF proteins and particularly to their soluble light chain (NF-L) could be a more practical surrogate marker for disease staging in amyotrophic lateral sclerosis (ALS), an invariably fatal and clinically heterogeneous neuromuscular disorder. ⋯ Immunoreactivity to plasma NF-L and homologous NF proteins is informative of the stage of disease progression in ALS. The determination of NF antibody levels in plasma could be added to the growing panel of disease-monitoring biomarkers in ALS targeting cytoskeletal antigens.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2014
The cognitive burden of stroke emerges even with an intact NIH Stroke Scale Score: a cohort study.
We aim to facilitate recognition of the cognitive burden of stroke by describing the parallels between cognitive deficits and the National Institutes of Health Stroke Scale (NIHSS), a widely used measure of stroke severity. ⋯ Cognitive deficits were common even in patients with the lowest NIHSS scores. Thus, low NIHSS scores are not effective indicators of good cognitive outcomes after stroke.