Rare genetic movement disorders usually manifest early in life with dystonia, parkinsonism, chorea, or a combination thereof. These are often associated with neurodevelopmental delay, intellectual disability, speech problems, retinal abnormalities, seizures, ataxia, spasticity, or systemic features. Due to their vast number and pheno-genotypic heterogeneity, the diagnosis of these disorders can be challenging.
View Article and Find Full Text PDFEur J Neurol
April 2025
Background: Urinary and sexual symptoms are common following neurological disease, and we aimed to develop multidisciplinary inter-society evidence-based management guidelines.
Methods: The ADAPTE framework was used, and a systematic search of guidelines published in different languages was performed. Guidelines, consensus statements, and systematic reviews were included, and guideline quality was appraised using AGREE II.
Mov Disord Clin Pract
July 2025
Brain calcification is often detected incidentally, but basal ganglia calcification has a wide differential diagnosis, including genetic and acquired causes. Primary familial brain calcification (PFBC) (formerly 'Fahr's disease') refers to neurological disorders characterised by bilateral, symmetrical deposition of calcium-hydroxyapatite crystals in the basal ganglia and other encephalic regions, with a presumed genetic basis. Its clinical picture encompasses motor, cognitive and psychiatric manifestations in various combinations.
View Article and Find Full Text PDFBackground: Parkinson disease is a progressive neurodegenerative disorder with complex motor and nonmotor symptoms. To assess these, clinical assessments are completed, providing a snapshot of a person's experience. Monitoring Parkinson disease using wearable devices can provide continuous and objective data and capture information on movement patterns in daily life.
View Article and Find Full Text PDFMov Disord Clin Pract
November 2024
J Am Vet Med Assoc
October 2024
Mov Disord Clin Pract
October 2022
J Neurol Sci
August 2021
Parkinsonism Relat Disord
February 2021