Lafora disease (LD) is an autosomal recessive inherited form of progressive myoclonic epilepsy with dementia, ataxia and cerebellar signs, usually presenting in the second decade of life and inexorably progressing until death, that usual occurres within 5-10 years. Neuropathological hallmark of LD are Lafora bodies, that can be found in neurons and in other sites, including the heart, skeletal muscle, liver, and sweat gland duct cells. In 1995, Minassian et al., mapped on chromosome 6q24 the gene of LD, called EPM2A and encoding for laforin, a tyrosine phosphatase protein. However, up to 20% cases of LD does not genetically link to chromosome 6. We describe two sisters affected from biopsically diagnosed LD and with no evidence of EPM2A mutation. Although familial cases of LD are already reported in Literature, clinical-EEG study of these two sisters permit to follow-up clinical and neurophysiopathological evolution, such as to do genetic speculations.
|Translated title of the contribution||Lafora's disease in two sisters: A clinical, electrophysiological, genetic and bioptic study|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Oct 2002|
ASJC Scopus subject areas
- Clinical Neurology