Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Mosaicism trisomy 10 in a 14-month-old child with additional neurological abnormalities: case report and literature review. [PDF]
Gao Y, Ma YC, Ju YH, Li YN.
europepmc +1 more source
ABSTRACT Objective Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) is an inflammatory central nervous system disorder with variable outcomes. Relapse occurs in a subset of patients, but early predictors remain unclear. We aimed to identify admission‐available features associated with 1‐year recurrence and develop an interpretable ...
Qingting Hong +10 more
wiley +1 more source
Brain computed tomography (CT) findings in patients with vertigo and without focal neurological abnormalities in the emergency department of a tertiary center in Saudi Arabia: a retrospective study. [PDF]
Alshahrani SM +6 more
europepmc +1 more source
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley +1 more source
Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities. [PDF]
Lee AJ +5 more
europepmc +1 more source
Systemic Extracerebral Atherosclerotic Burden and Dementia Risk After Incident Stroke
ABSTRACT Background Stroke survivors are at increased risk of dementia, but clinically accessible markers of risk heterogeneity remain limited. Previous studies have largely examined atherosclerotic disease in individual vascular beds rather than the overall burden of systemic extracerebral atherosclerosis.
Zhexuan Yu +4 more
wiley +1 more source
Frequency and Phenotype of Coexisting Aquaporin‐4 and Autoimmune Encephalitis Autoantibodies
ABSTRACT Among 9457 aquaporin‐4 (AQP4) immunoglobulin G‐positive patients, 2071 underwent autoimmune encephalitis antibody testing and 85 (4%) had coexisting antibodies, most commonly cerebrospinal fluid glial fibrillary acidic protein‐IgG and N‐methyl‐D‐aspartate receptor‐IgG, or serum high‐titer GAD65‐IgG.
Laura Cacciaguerra +25 more
wiley +1 more source
Anticoagulation Treatment Response Among Phenotypic ESUS Clusters: Evidence From CASPR
ABSTRACT Objective To evaluate treatment effect heterogeneity across phenotypic clusters of patients with cryptogenic embolic stroke using causal inference methods. Methods From a retrospective, multicenter cohort of patients with cryptogenic embolic stroke, we estimated the treatment effect of anticoagulation versus antiplatelet therapy in patients ...
Elena Badillo Goicoechea +53 more
wiley +1 more source
This is the third volume of a trilogy outlining the best practice for the care of people with neurological conditions. Volumes I and II dealt with the physically disabling and non-physically disabling neurological conditions respectively.
Elan, Neurological Alliance of Ireland
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