Background: Spinal muscular atrophies (SMAs) are a group of disorders characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem. It is transmitted by autosomal recessive inheritance and most of these conditions are linked to SMN gene. Even if the clinical picture is mainly dominated by the diffuse muscular atrophy, some patients can also show atypical clinical features such as myoclonic epilepsy ("SMA plus"), which may be related to other genes. In particular, the association of SMA and progressive myoclonic epilepsy (PME) has been previously described.
Case Presentation: We present a case of two brothers with late onset SMA associated with a unique form of non progressive myoclonic epilepsy without cognitive impairment or ataxia. They had identical clinical and electrophysiological features.
Conclusions: The association of SMA with myoclonic epilepsy may constitute a separate and genetically independent syndrome with unique clinical and electrophysiological findings. Collection of similar cases with genetic studies is needed to define the phenotype clearly and to identify new genes and molecular pathogenetic mechanisms involved in this condition.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4182784 | PMC |
| http://dx.doi.org/10.1186/1755-7682-7-42 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Tremor as an intrinsic feature of juvenile myoclonic epilepsy.
Epilepsia
January 2025
Department of Medical Sciences, Institute of Neurology, Magna Græcia University, Catanzaro, Italy.
We aim to understand whether tremor may be an intrinsic feature of juvenile myoclonic epilepsy (JME) and whether individuals with JME plus tremor experience a different disease course. Thirty-one individuals with JME plus tremor (17 females, mean age = 33.9 ± 13.
View Article and Find Full Text PDFReconstruction and application of multilayer brain network for juvenile myoclonic epilepsy based on link prediction.
Cogn Neurodyn
December 2025
Department of Nuclear Magnetic Resonance, Lanzhou University Second Hospital, Lanzhou, 730030 China.
Unlabelled: Juvenile myoclonic epilepsy (JME) exhibits abnormal functional connectivity of brain networks at multiple frequencies. We used the multilayer network model to address the heterogeneous features at different frequencies and assess the mechanisms of functional integration and segregation of brain networks in JME patients. To address the possibility of false edges or missing edges during network construction, we combined multilayer networks with link prediction techniques.
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 PDFMyoclonus After Cardiac Arrest: Need for Standardization-A Systematic Review and Research Proposal on Terminology.
Crit Care Med
November 2024
Department of Neurology, Neurocritical Care and Neurorehabilitation, Christian Doppler University Hospital, Paracelsus Medical University, Member of the European Reference Network EpiCARE, Salzburg, Austria.
Objectives: Although myoclonus less than or equal to 72 hours after cardiac arrest (CA) is often viewed as a single entity, there is considerable heterogeneity in its clinical and electrophysiology characteristics, and its strength of association with outcome. We reviewed definitions, electroencephalogram, and outcome of myoclonus post-CA to assess the need for consensus and the potential role of electroencephalogram for further research.
Data Sources: PubMed, Embase, and Cochrane databases.
Power 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 PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!