Back to Search
Start Over
Late-onset and Slow-progressing Lafora Disease in Four Siblings with EPM2B Mutation
- Source :
- Epilepsia. 46:1695-1697
- Publication Year :
- 2005
- Publisher :
- Wiley, 2005.
-
Abstract
- We report a family with four brothers affected by Lafora disease (LD). Mean age at onset was 19.5 years (range, 17-21). In all cases, the initial obvious symptoms were diffuse myoclonus and occasional generalized tonic-clonic seizures (GTCSs), followed by cognitive difficulties. Severity of myoclonus, seizure diaries, and neurologic and neuropsychological status were finally evaluated in March 2005. The duration of follow-up was >10 years for three subjects. Daily living activities and social interaction were preserved in all cases and, overall, the progression of the disease was slow. Genetic study revealed the homozygous mutation D146N in the EPM2B gene. We suggest that this mutation may be associated with a less severe LD phenotype.
- Subjects :
- Adult
Male
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Pediatrics
Adolescent
Ubiquitin-Protein Ligases
Late onset
Progressive myoclonus epilepsy
Neuropsychological Tests
Severity of Illness Index
Medical Records
Lafora disease
Epilepsy
Degenerative disease
Severity of illness
medicine
Humans
genetics
Longitudinal Studies
Age of Onset
diagnosis/genetics/psychology
business.industry
Siblings
Electroencephalography
medicine.disease
Magnetic Resonance Imaging
Pedigree
Surgery
Adolescent, Adult, Age of Onset, Carrier Proteins
genetics, Cognition Disorders
diagnosis/genetics/psychology, Disease Progression, Electroencephalography, Follow-Up Studies, Humans, Lafora Disease
diagnosis/genetics/psychology, Longitudinal Studies, Magnetic Resonance Imaging, Male, Medical Records, Mutation
genetics, Neuropsychological Tests, Pedigree, Phenotype, Severity of Illness Index, Siblings, Social Adjustment
Phenotype
Lafora Disease
Neurology
Mutation
Disease Progression
Neurology (clinical)
medicine.symptom
Age of onset
Carrier Proteins
Cognition Disorders
business
Social Adjustment
Myoclonus
Follow-Up Studies
Subjects
Details
- ISSN :
- 15281167 and 00139580
- Volume :
- 46
- Database :
- OpenAIRE
- Journal :
- Epilepsia
- Accession number :
- edsair.doi.dedup.....466dda82c3b213c07eb8c5ab851a6637