Journal of the neurological sciences
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Randomized Controlled Trial
Transcranial direct current stimulation in the prophylactic treatment of migraine based on interictal visual cortex excitability abnormalities: A pilot randomized controlled trial.
The aims of this paper are (i) to compare the excitability of visual cortex in migraine patients with healthy volunteers; and (ii) if an abnormal excitability has been found, to modulate cortical excitability in migraine patients with transcranial direct current stimulation (tDCS) and observe their clinical and neurophysiological effects. ⋯ Findings of the study suggested that inhibitory tDCS on visual cortex might be an alternative and non-pharmacological treatment for migraine prophylaxis. However the clinical improvements of patients after tDCS treatment are not correlated with changes in cortical excitability.
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Recent epidemiology studies have indicated that traumatic brain injury (TBI) can increase the risk of developing neurodegenerative diseases such as Alzheimer's disease (AD). Amyloid-β (Aβ) plaques and neurofibrillary tangles are pathological indicators of AD. The accumulation of Aβ is considered the first step of AD pathophysiology. ⋯ These findings indicate that amyloid accumulation is an important indicator of cognitive impairment, and amyloid-PET should be a safe and useful tool for diagnosing amyloid-related cognitive impairment. APOE allele might play a role in the occurrence of cognitive impairment after mTBI. The contribution of mTBI to the amyloid accumulation requires further study, and mTBI patients should be recruited for longitudinal research with repeated amyloid-PET studies.
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Comparative Study
Nonmotor symptoms in essential tremor: Comparison with Parkinson's disease and normal control.
Recently, the definition of essential tremor (ET) has evolved to have two different meanings. One refers to classic ET, a benign mono-symptomatic disorder, and the other refers to a heterogeneous neurodegenerative disorder. The aim of this study was to categorize nonmotor symptoms according to ET phenotype, and compare them, along with autonomic function, in people with Parkinson's disease (PD) and normal controls. ⋯ Patients with ET have several nonmotor symptoms similar to those of patients with PD, which have a similar impact on their quality of life. Therefore, nonmotor symptoms should be considered in the clinical evaluation and management of ET.
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Alterations in peripheral blood mononuclear cell (PBMC) cytokine production have been found in multiple sclerosis (MS) compared to healthy controls. We have previously found that stimulated PBMC-produced TNF-α and IFN-γ modulated MS relapse risk, such that raised TNF-α was protective, while raised IFN-γ increased relapse risk. ⋯ Our results show novel modulation of TNF-α and IFN-γ associations with relapse by SNPs in major cytokines. These findings suggest the potential for these genes and/or their products as potential therapeutic targets in MS.
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We describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), linked to colony-stimulating factor 1 receptor (CSF1R) mutations in four Korean cases. Clinical, biochemical, neuroimaging and neuropathological findings were obtained by direct evaluation and from previous medical records. The genetic analysis of the CSF1R gene was done in two autopsy-confirmed ALSP cases and two cases where ALSP was suspected based on the clinical and neuroimaging characteristics. ⋯ We also found a novel mutation (c.2296A>G; p. M766V) in a patient presenting with hand tremor, stuttering and hesitant speech, and abnormal behavior whose father died from a possible diagnosis of spinocerebellar ataxia. To the best of our knowledge, this is the first documented ALSP-linked CSF1R mutation in Korea and supports the suggestion that HDLS and POLD, with pathological characteristics that are somewhat different but which are caused by CSF1R mutations, are the same spectrum of disease, ALSP.