Epilepsia (Copenhagen), 2005-12, Vol.46 (12), p.1993-1995
2005
Details
- Autor(en) / Beteiligte
- Titel
- Electroclinical and Genetic Findings in a Family with Cortical Tremor, Myoclonus, and Epilepsy
- Ist Teil von
- Epilepsia (Copenhagen), 2005-12, Vol.46 (12), p.1993-1995
- Ort / Verlag
- 350 Main Street , Malden , MA 02148 , USA and 9600 Garsington Road , Oxford , OX4 2XG , England: Blackwell Science Inc
- Erscheinungsjahr
- 2005
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- We report a five‐generation family showing cortical tremor, myoclonus, and epilepsy, originating from Naples, Italy. Eleven members, aged 24–56 years (mean: 39.2 years), suffered from hand tremor and myoclonus, whereas generalized seizures occurred in six. Electrophysiological study confirmed the presence of cortical reflex myoclonus in all affected members. In addition, giant somatosensory‐evoked potential components and enhanced long loop reflex I were found also in three presymptomatic members who manifested hand tremor and myoclonus at upper limbs after 1.5 years of follow‐up. Genetic study of the pedigree revealed a significant linkage on chromosome 2p (maximum lod score = 5.9). Further observations are needed to clarify the pathophysiology of this condition.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0013-9580eISSN: 1528-1167DOI: 10.1111/j.1528-1167.2005.00346.xTitel-ID: cdi_proquest_miscellaneous_69065488
- Format
- –
- Schlagworte
- Adolescent, Adult, Anticonvulsants. Antiepileptics. Antiparkinson agents, BAFME, Biological and medical sciences, Child, Chromosome Mapping, Chromosomes, Human, Pair 2 - genetics, Comorbidity, Cortical tremor, Electroencephalography - statistics & numerical data, Electrophysiological study, Electrophysiology - statistics & numerical data, Epilepsies, Myoclonic - diagnosis, Epilepsies, Myoclonic - epidemiology, Epilepsies, Myoclonic - ethnology, Epilepsies, Myoclonic - genetics, Essential Tremor - diagnosis, Essential Tremor - ethnology, Essential Tremor - genetics, European Continental Ancestry Group - genetics, Evoked Potentials, Somatosensory, Female, Follow-Up Studies, Genetic Markers, Haplotypes - genetics, Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy, Humans, Italy - ethnology, Linkage analysis, Lod Score, Male, Malformations of the nervous system, Medical sciences, Middle Aged, Myoclonus, Myoclonus - diagnosis, Myoclonus - epidemiology, Myoclonus - genetics, Nervous system (semeiology, syndromes), Neurology, Neuropharmacology, Pedigree, Pharmacology. Drug treatments, Syndrome