Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Dec 2003
CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions.
To determine the role of CSF hypocretin-1 in narcolepsy with and without cataplexy, Kleine-Levin syndrome (KLS), idiopathic and other hypersomnias, and several neurological conditions. ⋯ Low CSF hypocretin-1 is highly specific (99.1%) and sensitive (88.5%) for narcolepsy with cataplexy. Hypocretin ligand deficiency appears not to be the major cause for other hypersomnias, with a possible continuum in the pathophysiology of narcolepsy without cataplexy and idiopathic hypersomnia. However, partial hypocretin lesions without low CSF hypocretin-1 consequences cannot be definitely excluded in those disorders. The existence of normal hypocretin levels in narcoleptic patients and intermediate levels in other rare aetiologies needs further investigation, especially for KLS, to establish the functional significance of hypocretin neurotransmission alterations.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2003
Case ReportsAuditory disturbance as a prodrome of anterior inferior cerebellar artery infarction.
To investigate the clinical and radiological features of patients presenting with an acute auditory syndrome as a prodromal symptom of anterior inferior cerebellar artery (AICA) infarction. ⋯ Acute auditory syndrome may be a warning sign of impending pontocerebellar infarction in the distribution of the AICA. The acute auditory syndrome preceding an AICA infarct may result from ischaemia of the inner ear or the vestibulocochlear nerve.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2003
Randomized Controlled Trial Clinical TrialPyridostigmine in postpolio syndrome: no decline in fatigue and limited functional improvement.
To investigate the effect of pyridostigmine on fatigue, physical performance, and muscle function in subjects with postpoliomyelitis syndrome. ⋯ Pyridostigmine in the prescribed dose did not reduce fatigue in subjects with postpoliomyelitis syndrome. However, it may have a limited beneficial effect on physical performance, especially in subjects with neuromuscular transmission defects in normal sized motor units.
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The advent of molecular biology has changed the way in which neurological illnesses are classified, and the single genes causing a number of disorders have been identified. In addition, techniques such as linkage analysis and DNA sequencing have resulted in greater understanding of multi-gene diseases. This review covers some of the molecular tools and animal models used for genetic analysis and for DNA based diagnosis, and a brief survey of information available on the internet.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2003
Evaluation of the modifying effects of unfavourable genotypes on classical clinical risk factors for ischaemic stroke.
Ischaemic stroke is a frequent heterogeneous multifactorial disease that is affected by a number of genetic mutations and environmental factors. We hypothesised the clinical importance of the interactions between common, unfavourable genetic mutations and clinical risk factors in the development of ischaemic stroke. ⋯ In certain combinations, pairing of common unfavourable genetic factors, which alone confer only minor or non-significant risk, with clinical risk factors can greatly increase the susceptibility to ischaemic stroke.