Lafora disease due to EPM2B mutations: A clinical and genetic study.
Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.
Reactive oxygen species (ROS) such as the superoxide anion (O2-*), hydroxyl radical (*OH), hydrogen peroxide (H2O2), alkoxyl (RO*), peroxyl radical (ROO*) and nitric oxide (NO*) are thought to be involved in the development of various human diseases such as Asperger 's syndrome , cancer , Parkinson's disease , Lafora disease
, Alzheimer's disease , atherosclerosis , heart failure , myocardial infarction , lichen planus  and depression .
M2 PHARMA-September 7, 2017-Valerion Provides Proof-of-Concept Data for VAL-0417 for Treatment of Lafora Disease
VAL-0417 is a novel fusion protein that combines Valerion's delivery antibody linked to amylase, to uniquely target Lafora bodies present in all tissues of Lafora disease patients.
Similar inclusions were also found in other (albeit very limited number of) inherited metabolic disorders that affect age-groups beyond infancy (i.e., childhood and adolescence), namely, Lafora disease
Clinical and genetic findings in 26 Italian patients with Lafora Disease
. Epilepsia 2006 ;47: 6403.
is a rare neurometabolic condition caused by a mutation in the EPM2A and/or EPM2B genes.
Key words: Lafora disease
, myoclonic epilepsy, Costa Rica.
The differential diagnosis of type IV GSD includes Lafora disease
, since the liver biopsy can show similar inclusions.
Polyglucosan bodies in endothelial cells of the papillary dermis were not seen in the case reported by Busard and colleagues, but they have been described around endoneurial blood vessels and in perivascular macrophages in sural nerve biopsies. In contrast to adult polyglucosan body disease, in which inclusions are most prominent in myoepithelial cells of the apocrine secretory coil, Lafora disease
shows inclusions in apocrine and eccrine duct cells.
Abstract: The Lafora disease
is an uncommon genetic condition.