Movement Disorders and Neurometabolic Diseases
نویسندگان
چکیده
منابع مشابه
Exome Sequencing and the Management of Neurometabolic Disorders.
BACKGROUND Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular lev...
متن کاملneurometabolic disorders, clinical and neuroimaging finding
how to cite this article: jafari n. neurometabolic disorders, clinical and neuroimaging finding. iran j child neurol. autumn 2014;8;4(suppl.1):23. pls see pdf.
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Neurons require long-distance microtubule-based transport systems to ferry vital cellular cargoes and signals between cell bodies and axonal or dendritic terminals. Considerable progress has been made on developing a molecular understanding of these processes and how they are integrated into normal neuronal functions. Recent work also suggests that these transport systems may fail early in the ...
متن کاملMovement Disorders and Neuromodulation
Movement disorders are neurological conditions affecting speed, fluency, quality, and ease of movement. Deep brain stimulation (DBS) is used to treat advanced Parkinson's disease, essential tremor, and dystonia. Possible target sites for DBS include the ventral intermediate nucleus of the thalamus, the globus pallidus internus, and the subthalamic nucleus. High-frequency DBS leads to a kind of ...
متن کاملPET and movement disorders.
In this paper the use of PET for determining the patterns of disruption of both regional cerebral metabolism, and the pre- and post-synaptic dopaminergic systems, associated with movement disorders is reviewed. That the various akinetic-rigid syndromes result in distinctive PET findings is shown, making functional imaging valuable in their differential diagnosis. PET may also be useful for dete...
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ژورنال
عنوان ژورنال: Seminars in Pediatric Neurology
سال: 2018
ISSN: 1071-9091
DOI: 10.1016/j.spen.2018.02.003