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Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new variants.
Heliyon
January 2025
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a disorder in which ceramide accumulation in lysosomes due to a decrease in acid ceramidase activity. This case suggests attention to this rare class of deceases involving both the central and peripheral nervous systems.
View Article and Find Full Text PDFDeterioration of preexisting myoclonus following nifedipine use in parkinsonian syndrome: A case report.
eNeurologicalSci
March 2025
Department of Neurology, Nagoya City University Graduate School of Medical Sciences, Aichi, Japan.
L-type calcium channel antagonists are uncommon causes of myoclonus, and the underlying mechanism remains unclear. Here, we report a case of parkinsonian syndrome with deterioration of preexisting myoclonus after nifedipine use. A 96-year-old woman was administered a single dose of sustained-release nifedipine for chest pain.
View Article and Find Full Text PDFSegmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?
Parkinsonism Relat Disord
January 2025
Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, 00165, Italy.
Segmental Brainstem Myoclonus (SBM) is a rare movement disorder characterized by rhythmic contractions of muscles innervated by brainstem segments. We report a 20-year-old patient with ADCK3-related spinocerebellar ataxia type 9 (SCAR9) presenting with sudden-onset myoclonic movements of the throat, tongue, and soft palate. Brain MRI showed stable findings, including dentate nucleus hyperintensities.
View Article and Find Full Text PDFPower Spectral Density and Default Mode Network Connectivity in Generalized Epilepsy Syndromes: What to Expect from Drug-Resistant Patients.
Biomedicines
December 2024
Neurology Department, Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa", 16 Universitatii Street, 700115 Iasi, Romania.
Recent studies have described unique aspects of default mode network connectivity in patients with idiopathic generalized epilepsy (IGE). A complete background in this field could be gained by combining this research with spectral analysis. An important objective of this study was to compare linear connectivity and power spectral densities across different activity bands of patients with juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), generalized tonic-clonic seizures alone (EGTCSA), and drug-resistant IGE (DR-IGE) with healthy, age-matched controls.
View Article and Find Full Text PDFBroadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.
Gene
March 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
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