Page 159 - CIBERER-2015-eng

Research Groups
of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanis3h cohort. Neuromuscul Disord. 2015; 25(7):548-53.
Highlights
In the annuity 2015 two have been the most impor- tant contributions in our line of work of genetic neu- ropathies: the discovery of an axonal CMT form as-
arino, h; hoeFtBerger, r; gresa-arriBas, n; martín- eZ-hernándeZ, e; armangue, t; Kruer, m c.; arPa, J; domingo, J; roJc, B; Bataller, l; saiZ, a; dalmau, J; graus, F. Paraneo- plastic Neurológical Syndromes and Glutamic Acid Decarbox- ylase Antibodies. JAMA Neurology. 2015 ;72(8):874-81.
rophy that is one of the most debilitating signs of this disease; The study has an experimental side in a Drosophila model, made by the team of genetics
sociated with a gene mutation EGR2 (Sevilla T et al), gene transcription myelination whose alteration so far only it was associated with demyelinating neu- ropathies, opening new questions for explaining the pathogenesis of these diseases; the other contribu- tion, also in collaboration with the group of genetics CIB Principe Felipe (Drs Palau and Espinós) is the discovery that the gene Junctophilin-1 can act as a modulator of the clinical expression of CMT neuropa- thies caused by GDAP1 gene mutations (Pla-Martin eta al), resulting in a tremendous clinical variability has hitherto been inexplicable. Other activities that have been made in this area is the maintenance and operation of the database of Spanish patients CMT who is serving as the basis for an epidemiological study of prevalence in Valencia and to identify fami- lies and cases that do not have a genetic character- ization and have given way to the discovery of two new genes whose publication is pending. We must also point out our cooperation in the development of a Spanish clinic guide amyloid polyneuropathy as- sociated with mutations in the transthyretin.
In the field of motor neuron diseases, we have start- ed a new line of research with the addition of Dr. Vazquez with a research contract Post-MIR-orient- ed clinical, genetic and neuroimaging of patients with ALS characterization.
In the field of the muscular dystrophies and myo- pathies the two most relevant publications of 2015 dealing show that autophagy and apoptosis are ac- tivated in myotonic dystrophy 1 (Barguiela A et al), with the mechanisms responsible for muscle at-
prof. Artero (University of Valencia), and a clinical experimental side which has been performed in our laboratory using muscle biopsies from patients. The other work is a Spanish metacentric study includ- ing a large number of patients, of which our center has been a leader of inclusion, in which a screening for Pompe disease late by the enzymatic method of dry drop of blood is performed. The result has been a prevalence of such glucogenosis at 5 and 2% of patients with myopathy and waists or unexplained hiperCkemia maintained, respectively. Moreover, we continued with the development of clinical trials of advanced therapies in Duchenne Muscular Dystro- phy, highlighting the closure of two mega clinical phase III trials using a drug that corrects the non- sense mutations (Atalureno) and another that acts by activating the NO by tadalafil. Finally note that we have participated in the development of a clin- ical guideline for monitoring patients with Pompe disease late.
Finally, in the field of autoimmune encephalopathies ataxias and whose activity leads in our group Dr. Bataller, highlights a multicenter study coordinated by Dr. Graus of H Clinic of Barcelona on neurological syndromes associated with GAD antibodies which are also the expression a paraneoplastic syndrome. This field should be noted in our Biobank availabil- ity of a serum containing large-sized samples of numerous valuable encephalopathies, autoimmune ataxias and neuromuscular diseases.
Institution: Fundación para la Investigación del Hospital La Fe · Contact: Hospital Universitario de La Fe Avda. Fernando Abril Martorell, 106. 46009 Valencia · Tel.: 96 124 55 44 · E.mail: [email protected]
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