Results 51 to 60 of about 5,188,381 (253)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
Autonomic Dysfunction in Wilson's Disease: A Comprehensive Evaluation during a 3-Year Follow Up
Frontiers in Physiology, 2017 Objectives: Wilson's disease is reported to have autonomic dysfunction, but comprehensive evaluation of autonomic function is lacking. Additionally, little is known about the change of autonomic function of Wilson's disease during continuous therapy.
Kai Li +8 more
doaj +1 more source
Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane +10 more
wiley +1 more source
A Child of Wilson’s Disease Presenting with Coprolalia
, 2017 Wilson’s disease is a rare autosomal recessive genetic disorder of copper metabolism. Neurological and psychiatric manifestations can be a presenting manifestation of Wilson’s disease.
Sumit Kumar Gupta +3 more
core +1 more source
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source
Journal of Medical Case Reports, 2010 Introduction We report an unusual case of Wilson's disease that was revealed by presentation of leptospirosis. The prompt detection of this potentially life-threatening disease highlights the importance of careful investigation.
Andreadis Emmanuel A +2 more
doaj +1 more source
Wilson’s disease masquerading as mania
, 2016 Wilson’s disease involves abnormal copper metabolism, with associated impairments in the liver/brain. While psychiatric symptoms have been reported in about 20% cases at presentation; mania as an initial manifestation is rare in this patient group.
Mitra, Sayantanava +2 more
core +1 more source
Penicillamine-Induced Membranous Nephropathy in an Adolescent with Wilson’s Disease [PDF]
, 2022 Membranous nephropathy may present in any age group. While it is one of the most common causes of adult nephrotic syndrome, it is a rare histologic entity in the paediatric population.
Ana Paula Serrão +8 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini +12 more
wiley +1 more source
Wilson’s Disease: An Inherited, Silent, Copper Intoxication Disease [PDF]
, 2016 Wilson’s disease is a rare, autosomal recessive, genetic, copper overload disease, which evokes multiple motor or neuropsychiatric symptoms and liver disease. It is the consequence of a variety of different mutations affecting the ATP7B gene.
Uta Merle, Ralf Weiskirchen
core