Results 71 to 80 of about 5,458 (159)

Early brain‐penetrant immunotherapy reverses interferon signature and improves motor outcome in a case of ADAR1‐related Aicardi‐Goutières syndrome

open access: yesClinical &Translational Immunology, Volume 15, Issue 7, 2026.
Abstract Objectives Aicardi‐Goutières syndrome (AGS) is a genetic interferonopathy resulting from defects in nucleic acid metabolism and subsequent enhanced type I interferon signalling. We report how an expedited genomic diagnosis in conjunction with natural history data can enable a long‐term brain‐penetrant anti‐inflammatory regimen to optimise ...
Russell C Dale   +13 more
wiley   +1 more source

Family cervical dystonia, clinical case description

open access: yesЛечащий Врач, 2021
The article presents clinical description of the family in which, in three generations, clinical picture of cervical dystonia was observed. The peculiarity of this case is high sensitivity to exogenous triggering factors and dystonic tremor.
V. A. Suvorova   +4 more
doaj  

Diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT: A clinical follow up study

open access: yesFrontiers in Aging Neuroscience, 2014
The [123I]ioflupane - a dopamine transporter radioligand - SPECT (DaT-SPECT) has proven to be useful in the differential diagnosis of tremor. Here, we investigate the diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT. Therefore,
Manuel eMenéndez-González   +6 more
doaj   +1 more source

Dystonia, Tremor, and Dystonic Tremor

open access: yes
Dystonia and tremor are distinct movement disorders, but they overlap in certain circumstances. First, dystonia and tremor may co-exist in the same individual, in the same or different regions of the body. Second, dystonic movements are sometimes rapid and repetitive, and they may mimic tremor.
Aasef G. Shaikh   +11 more
openaire   +1 more source

A Novel Presentation of an Ocular Geste Antagoniste in Cervical Dystonia: A Case Report

open access: yesTremor and Other Hyperkinetic Movements, 2013
Background: A geste antagoniste or sensory trick is a well described phenomenon associated with primary cervical dystonia. Craniocervical tactile stimulation or stereotyped limb movements allow patients to transiently ameliorate dystonic activation ...
James T. Boyd   +3 more
doaj   +1 more source

Difficult Diagnoses in Hyperkinetic Disorders – A Focused Review

open access: yesFrontiers in Neurology, 2012
Hyperkinesias are heterogeneous conditions that share the feature of production of involuntary, abnormal, excessive movements. Tremor, dystonia, and chorea are amongst the most common of these phenomena.
Francisco eCardoso
doaj   +1 more source

Focal Dystonic Tremor as a Prominent Feature in a Child with a CACNA1A-Related Disorder. [PDF]

open access: yesMov Disord Clin Pract, 2023
Mercati M   +6 more
europepmc   +1 more source

The Challenge of Choosing the Right Stimulation Target for Dystonic Tremor-A Series of Instructive Cases. [PDF]

open access: yesMov Disord Clin Pract, 2023
Paschen S   +6 more
europepmc   +1 more source

Dystonic Tremor Disappearance after Internal Capsule Stroke. [PDF]

open access: yesMov Disord Clin Pract, 2023
Buijink AWG, Snijders AH, Helmich RC.
europepmc   +1 more source

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