Results 71 to 80 of about 12,825 (214)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Sleep disorders in cerebellar ataxias
, 2017 As ataxias cerebelares se caracterizam por uma enorme variedade de etiologias, cursando tanto com sintomas motores como também com sintomas não motores.
Pedroso, Jose L. +6 more
core
Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu +3 more
wiley +1 more source
The Neuropathology of Autoimmune Ataxias
, 2022 Autoimmune-mediated ataxia has been associated with paraneoplastic disease, gluten enteropathy, Hashimoto thyroiditis as well as autoimmune disorders without a known associated disease. There have been relatively few reports describing the neuropathology
H. Brent Clark
core +1 more source
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
Annals of Clinical and Translational Neurology, EarlyView.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
Annals of Clinical and Translational Neurology, EarlyView.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
Arquivos de Neuro-Psiquiatria, 2015 Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation.
Wladimir Bocca Vieira de Rezende Pinto +4 more
doaj +1 more source
Copine‐4 Paraneoplastic Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We characterize copine‐4 (CPNE4)‐IgG and report clinical associations. Among 844 samples with unclassified neural IgGs identified by mouse‐brain indirect immunofluorescence assay over 2 years, 5 samples (serum, 3; CSF, 2) from 3 patients produced a distinctive cerebrum‐restricted synaptic pattern.
Mimi S. Fang +12 more
wiley +1 more source
Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.
PLoS ONE, 2017 BackgroundThe inositol 1,4,5-triphosphate (IP3) receptor type 1 gene (ITPR1) encodes the IP3 receptor type 1 (IP3R1), which modulates intracellular calcium homeostasis and signaling. Mutations in ITPR1 have been implicated in inherited cerebellar ataxias.
Cheng-Tsung Hsiao +5 more
doaj +1 more source
Ataxias heredodegenerativas [PDF]
, 2013 Descripción de las ataxias heredodegenerativas con énfasis en la semiología general de este tipo de enfermedades y la fisiopatología de los grandes grupos de ataxias.NEURODEGENERATIVE DISEASES NAMED AS ATAXIA CONSTITUTES THE MOST COMMON PATHOLOGY ...
Pedraza Linares, Olga Lucía +1 more
core +1 more source