X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B
نویسندگان
چکیده
منابع مشابه
X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics
The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT...
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OBJECTIVE To report the clinical benefits of bilateral deep brain stimulation (DBS) of the globus pallidus internus (GPi) in a patient with X-linked dystonia parkinsonism (XDP). DESIGN Case report. SETTING Tertiary referral center. Patient A 40-year-old Filipino man with genetically confirmed XDP and severely disabling generalized dystonia. Intervention Bilateral GPi DBS. MAIN OUTCOME MEA...
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Preliminary evidence from postmortem studies of X-linked dystonia-parkinsonism (XDP) suggests tissue loss may occur first and/or most severely in the striatal striosome compartment, followed later by cell loss in the matrix compartment. However, little is known about how this relates to pathogenesis and pathophysiology. While MRI cannot visualize these striatal compartments directly in humans, ...
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tion of movement disorders secondary to cervical disc prolapse with cord compression has not been previously highlighted. Our patient presented with upper limb choreathethosis and dystonia associated with tingling sensation of the fingers. However , there was no objective sensory loss. Neurophysiologic test-ings revealed right CTS. There was no electrophysiologic evidence of posterior column ab...
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ژورنال
عنوان ژورنال: Neurobiology of Disease
سال: 2017
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2016.12.016