Twenty-eight patients with the clinical diagnosis of probable Alzheimer disease (AD) were followed longitudinally until death. The presence of myoclonus, seizures, and paratonia was monitored as part of this process. At autopsy, 22 of the patients met pathologic criteria for AD and 6 had other degenerative neurologic diseases. Myoclonus was present in 55% of the AD patients and none of the non-AD patients. Seizures were present in 64% of the AD patients, and only 17% of the non-AD patients. Paratonia was found frequently in all patient groups. In most patients, symptoms developed late in the course of their illness. The incidence of myoclonus, seizures, and paratonia in our patients was higher than in most previous studies. The reasons for this finding are discussed.
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http://dx.doi.org/10.1097/00002093-199040400-00003 | DOI Listing |
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of Neurology, New York Presbyterian Brooklyn Methodist Hospital, Brooklyn, NY, US.
Background: Myoclonus is a hyperkinetic movement with various attributable etiologies, semiologies, and treatment outcomes. To our knowledge, few studies investigated adult-onset myoclonus in an inpatient setting.
Methods: We retrospectively reviewed charts of adult inpatients with myoclonus at New York Presbyterian Brooklyn Methodist Hospital between 2011 and 2021.
J Med Life
November 2024
Department of Radiology and Imagistic Medicine 1, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
The gene (OMIM: 608271) encodes the Microtubule-Actin Cross-Linking Factor 1 protein. Existing medical research shows that genetic mutations in the gene have been associated with neurodevelopmental and neurodegenerative disorders, with variants of unknown significance also linked to autism spectrum disorder (ASD). However, the number of reported autism disorder or epilepsy cases associated with mutations remains limited.
View Article and Find Full Text PDFBrain Sci
December 2024
Department of Medicine, Division of Neurology, Queen's University, Kingston, ON K7L 3N6, Canada.
Background/objectives: Cardiac arrest may cause significant hypoxic-ischemic injury leading to coma, seizures, myoclonic jerks, or status epilepticus. Mortality is high, but accurate prognostication is challenging. A multimodal approach is employed, in which electroencephalography (EEG) forms a key part with several recognised patterns of prognostic significance.
View Article and Find Full Text PDFActa Neurol Taiwan
December 2024
Zanjan University of Medical Sciences, Zanjan, Iran.
Here we presented a rare case of Lafora disease with neuropathy, ataxia and progression of symptoms into type one DM, GTCS and myoclonus during years. We believe that it is important to keep the diagnosis of Lafora disease in mind in every child presenting with myoclonus especially when mental and cerebellar deficits develop as well. Keywords: Drug-resistant seizure, Ataxia, Myoclonic jerky movements, Lafora.
View Article and Find Full Text PDFJ Epilepsy Res
December 2024
Department of Neurology, Comprehensive Epilepsy Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Lance Adams syndrome (LAS) is characterized by chronic action or intention myoclonus resulting from cerebral hypoxia. Perampanel, a non-competitive antagonist of aamino-3-hydroxy-5methyl-4 isooxazoleproprionic acid glutamate receptor, has demonstrated some efficacy in myoclonic epilepsy and other types of myoclonus. We report significant benefit in a patient with LAS treated with add on perampanel and provide a review of the relevant literature.
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