The enduring enigma of sporadic chorea: A single center case series.

Pedro José García-RuizLola Diaz FelizCici E FelizIsabel Lorda SanchezAlmudena Avila FernandezFiona Blanco KellyMaria Jose Trujillo TiebasJavier Del ValInma Navas Vinagre

Published in: Tremor and other hyperkinetic movements (New York, N.Y.) (2023)

Chorea can have a wide variety of genetic and sporadic causesWe reviewed the clinical records of patients with apparently sporadic chorea (ASC), who presented to our neurology department over the last 30 yearsWe detected 38 cases of apparent ASC; Our analysis revealed a wide array of different sporadic conditions and 5 cases of genetic choreaThe differential diagnosis of ASC is extensive and challenging.

Keyphrases

late onset
amyotrophic lateral sclerosis
nlrp inflammasome
genome wide
early onset
copy number
high resolution
high throughput
computed tomography
magnetic resonance imaging
dna methylation
mass spectrometry
data analysis
contrast enhanced