#IDIBELLseminars: Lafora disease, a rare progressive myoclonus epilepsy full of surprises

Pascual Sanz

Research Professor CSIC



S.Actes (Pavelló de Govern) – UB


Lafora disease (LD) is a rare, fatal neurodegenerative disorder characterized by the presence of tonic-clonic seizures, myoclonus, absences, and visual seizures. The hallmark of the disease is the accumulation of insoluble polyglucosan inclusions, in the brain and other peripheral tissues. Unfortunately, there is not any available treatment yet.
I will present data demonstrating that astrocytes play a main role in the pathophysiology of LD, since they are the cells that accumulate more polyglucosans in the brain, they become reactive, leading to the secretion of pro-inflammatory markers, and they have reduced capacity of glutamate uptake, which could lead to enhanced glutamatergic transmission. Then, I will describe our efforts to define putative biomarkers of the progression of the disease, and finally, I will describe the beneficial effects of the administration of different repurposing drugs in LD mouse models.

Hosted by Pablo M Garcia-Roves, Nutrition, Metabolism and Gene Therapy group


I got my PhD at the Univ. of Valencia in 1986 and stayed as a post-doc in the lab of Dr. David Meyer at the Univ. of California at Los Angeles (UCLA) (1987-1989), working on yeast secretion. In 1990, I obtained a Tenured Scientist position at the Instituto de Agroquimica y Tecnologia de Alimentos (IATA-CSIC), where I spent 8 years working on genetic engineering of industrial yeast. In 1998, I obtained a fellowship to stay in the group of Dr. Marian Carlson at Columbia Univ., New York, where I worked in the regulation of gene expression by glucose. In 2000, I started working at the Instituto de Biomedicina de Valencia (CSIC). There, I worked on the role of AMP-activated protein kinase, a cellular energy gauge, in the regulation of gene expression in mammals. Our work on AMPK led us to get interested in Lafora disease (LD), since we discovered the role of AMPK in this disease. Since then, our laboratory utilizes complementary approaches to advance the understanding of the molecular bases of LD.

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