Movement disorders in children often have a genetic basis. An explosion of genetic information in the past decade has led to the discovery of genetic defects in many forms of ataxia, parkinsonism, dystonia, tremor, and spastic paraparesis. This review focuses on genetically defined, early-onset diseases characterized primarily or exclusively by movement disorders. Particular emphasis is placed on disorders for which clinical or research testing is available.
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http://dx.doi.org/10.1016/s1071-9091(02)00014-1 | DOI Listing |
Mov Disord Clin Pract
January 2025
Department of Computer Science, University of Verona, Verona, Italy.
Background: Axial postural abnormalities (APAs) are frequent and disabling axial symptoms of Parkinson's disease (PD). Image-based measurement is considered the gold standard but may not accurately detect the true severity of APAs because these symptoms can appear or get worse under dynamic conditions.
Objective: The aim was to evaluate quantitative changes in APAs degree during prolonged standing and walking in both single- and dual-task conditions (motor + cognitive).
Background: Post-Traumatic Stress Disorder (PTSD) is a significant mental health concern in refugee populations exposed to trauma and displacement. Traditional treatments for PTSD often involve lengthy interventions. However, there's a growing interest in exploring more condensed, intensive treatments to improve outcomes and accessibility for refugees.
View Article and Find Full Text PDFAnn Indian Acad Neurol
January 2025
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
"Tardive syndrome" is an umbrella term for a group of drug-induced movement disorders associated with the prolonged use of mainly dopamine receptor blockers and also other medications. Early recognition followed by gradual withdrawal of the incriminating drug may lead to reversal, although not in all patients. Tardive syndromes are usually mixed movement disorders, with specific phenotypes, which may lead to severe disability.
View Article and Find Full Text PDFEur J Neurol
February 2025
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Background: The p.A53T variant in the SNCA gene was considered, until recently, to be the only SNCA variant causing familial Parkinson's disease (PD) in the Greek population. We identified a novel heterozygous p.
View Article and Find Full Text PDFAlzheimers Dement
January 2025
Unitat de Trastorns Cognitius, Cognition and Behavior Study Group, Hospital Universitari Santa Maria Universitat de Lleida, Lleida, Spain.
Introduction: Changes in sleep physiology can predate cognitive symptoms by decades in persons with Alzheimer's disease (AD), but it remains unclear which sleep characteristics predict cognitive and neurodegenerative changes after AD onset.
Methods: Using data from a prospective cohort of mild to moderate AD (n = 60), we analyzed non-rapid eye movement sleep spindles and slow oscillations (SOs) at baseline and their associations with baseline amyloid beta (Aβ) and tau and with cognition from baseline to 3-year follow-up.
Results: Higher spindle and SO activity predicted significant changes in Aβ and tau at baseline, lower Alzheimer's Disease Assessment Scale Cognitive Subscale (better cognitive performance) score, and higher Mini-Mental State Examination score from baseline to 36 months.
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