Publications by authors named "E H A Roze"
Objective: To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.
Methods: We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.
Results: Both patients exhibited gait disturbance and paresthesia.
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.
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- Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
- The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
- Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
Introduction: Recent new advances in myoclonus characterization and etiology justify an update of the 40-year-old respected classification of myoclonus proposed by Marsden, Hallett, and Fahn. New advances include genetic studies and clinical neurophysiology characterization.
Methods: The IAPRD appointed an expert panel to develop a new myoclonus classification.
Article Synopsis
- - KCNMA1-linked channelopathy leads to neurodevelopmental disorders, epilepsy, and non-epileptic episodes characterized by specific facial, behavioral, and physical symptoms.
- - A review of 14 videos highlighted typical episode features: facial changes, behavioral arrest, loss of postural control, and quick recovery without drowsiness, with episodes often triggered by emotions.
- - Distinguishing KCNMA1-related attacks from other conditions like paroxysmal dyskinesia and cataplexy will improve accurate diagnosis and targeted treatment for affected individuals.