Mental deterioration in lafora's disease

Abstract

Lafora's disease is included among the progressive myoclonic epilepsies. Despite the fact that dementia is a constant finding in this disease only a few papers have studied the timing of mental deterioration. We have performed wide neuropsychological testing in two cases early diagnosed as Lafora disease. The initial neuropsychological testing was carried out by the time there were no complaints of mental deterioration in both cases. In the first case consecutive neuropsychological testing demonstrated the rapidly progressive dementia. All neuropsychological testings in these cases showed severe impairment of right parietal lobe functions. Higher cortical functions related to language and intellectual processes were best preserved in both cases. The functions related to constructional praxis, memory and abstract concepts and processes were severely impaired. Our data suggest that mental deterioration is an early manifestation in Lafora disease, even by the time normal social life is not yet disturbed. Dominant hemisphere cognitive functions have been less impaired than the non-dominant ones. How a diffuse illness such as Lafora disease can cause such an asymmetrical higher cortical function deficit is not yet clear.

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease

“…Although cognitive deterioration is a key feature of LD, comprehensive studies on this type of dementia are very rare because the onset is subtle and the progression is rapid. However, all previous reports have described learning problems at school and a rapidly progressive ideo-motor slowing with severe impairment of executive functions, indicating the frontotemporal type of dementia ( 23 , 24 ). Moreover, a predominant frontal cognitive impairment was entirely correlated with spectroscopic and PET findings ( 17 , 24 , 25 ).…”