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Soon Chai Low, Ai Huey Tan, Shen-Yang Lim
No abstract text is available yet for this article.
January 3, 2017: Neurology
Anke H Snijders, Kaoru Takakusaki, Bettina Debu, Andres M Lozano, Vibhor Krishna, Alfonso Fasano, Tipu Z Aziz, Stella M Papa, Stewart A Factor, Mark Hallett
Freezing of gait (FOG) is a common and debilitating, but largely mysterious, symptom of Parkinson disease. In this review, we will discuss the cerebral substrate of FOG focusing on brain physiology and animal models. Walking is a combination of automatic movement processes, afferent information processing, and intentional adjustments. Thus, normal gait requires a delicate balance between various interacting neuronal systems. To further understand gait control and specifically FOG, we will discuss the basic physiology of gait, animal models of gait disturbance including FOG, alternative etiologies of FOG, and functional magnetic resonance studies investigating FOG...
November 2016: Annals of Neurology
Anastasios Bonakis, Angeliki Konsta, Dimitris Dikeos
No abstract text is available yet for this article.
February 2, 2016: Neurology
M Dani, D J Brooks, P Edison
Aggregated tau protein is a major neuropathological substrate central to the pathophysiology of neurodegenerative diseases such as Alzheimer's disease (AD), frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration and chronic traumatic encephalopathy. In AD, it has been shown that the density of hyperphosphorylated tau tangles correlates closely with neuronal dysfunction and cell death, unlike β-amyloid. Until now, diagnostic and pathologic information about tau deposition has only been available from invasive techniques such as brain biopsy or autopsy...
June 2016: European Journal of Nuclear Medicine and Molecular Imaging
Rodi Zutt, Martje E van Egmond, Jan Willem Elting, Peter Jan van Laar, Oebele F Brouwer, Deborah A Sival, Hubertus P Kremer, Tom J de Koning, Marina A Tijssen
Myoclonus is a hyperkinetic movement disorder characterized by brief, involuntary muscular jerks. Recognition of myoclonus and determination of the underlying aetiology remains challenging given that both acquired and genetically determined disorders have varied manifestations. The diagnostic work-up in myoclonus is often time-consuming and costly, and a definitive diagnosis is reached in only a minority of patients. On the basis of a systematic literature review up to June 2015, we propose a novel diagnostic eight-step algorithm to help clinicians accurately, efficiently and cost-effectively diagnose myoclonus...
December 2015: Nature Reviews. Neurology
Xiao-Jun Huang, Tian Wang, Jun-Ling Wang, Xiao-Li Liu, Xiang-Qian Che, Jin Li, Xiao Mao, Mei Zhang, Guang-Hui Bi, Li Wu, Yu Zhang, Jing-Yi Wang, Jun-Yi Shen, Bei-Sha Tang, Li Cao, Sheng-Di Chen
OBJECTIVE: We aimed to investigate the clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) in a large population and to analyze the genotype-phenotype correlation of PKD. METHODS: We analyzed clinical manifestations and conducted PRRT2 screening in 110 patients with PKD. Clinical data were compared between 91 probands with and without PRRT2 mutations. RESULTS: Among the enrolled participants (45 from 26 families, 65 sporadic cases), 8 PRRT2 mutations were detected in 20 PKD families (76...
November 3, 2015: Neurology
Andrea Poretti, Nicole I Wolf, Eugen Boltshauser
Cerebellar atrophy (CA) is a relatively common, but nonspecific finding in pediatric neurology and neuroradiology. Here, we provide an update of checklists for postnatally acquired CA, unilateral CA, and hereditary CA. In addition, we include a list of disorders with ataxia as a symptom, but without CA. These checklists may help the evaluation of differential diagnosis and planning of additional investigations. For diseases associated with hereditary CA, we provide an updated version of our neuroimaging-based pattern-recognition approach that classify CA as isolated ("pure") or associated ("plus") with other neuroimaging findings including hypomyelination, progressive white matter abnormalities, signal changes of the dentate nucleus, cerebellar cortex T2-hyperintensity, and basal ganglia involvement...
December 2015: Neuropediatrics
Hubert H Fernandez
Most, if not all, currently available drugs for Parkinson disease address dopaminergic loss and relieve symptoms. However, their adverse effects can be limiting and they do not address disease progression. Moreover, nonmotor features of Parkinson disease such as depression, dementia, and psychosis are now recognized as important and disabling. A cure remains elusive. However, promising interventions and agents are emerging. As an example, people who exercise regularly are less likely to develop Parkinson disease, and if they develop it, they tend to have slower progression...
January 2012: Cleveland Clinic Journal of Medicine
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