Degenerative Myelopathy in Hovawart Dogs: Molecular Characterization, Pathological Features and Accumulation of Mutant Superoxide Dismutase 1 Protein

Degenerative myelopathy (DM) is an adult-onset, progressive neurological disease affecting several breeds of dog. Homozygosity or compound heterozygosity for the canine superoxide dismutase 1 (SOD1) gene mutations, possibly modulated by the modifier SP110 locus, are associated with a high risk for DM. Although the pathophysiological mechanisms are largely unknown, a role for mutant SOD1 in causing neuronal degeneration has been postulated. Three Hovawart dogs, 9e12 years of age, developed slowly progressive incoordination and weakness of the pelvic limbs leading to non-ambulatory flaccid paraparesis and muscle atrophy. Neuropathological lesions comprised axonal degeneration and loss of ascending and descending spinal pathways, which were most severe in the mid- to caudal thoracic segments. Accumulation of mutant SOD1 protein in neurons and reactive astrocytes was demonstrated by immunolabelling with the 16G9 antibody against the mutant SOD1 protein (p.E40K amino acid substitution). All three dogs were homozygous for the c.118A allele, but none had the SP110 ‘risk’ haplotype, suggesting a weak association of SP110 with the onset of DM in this breed. Our data suggest that the Hovawart breed is predisposed to the SOD1:c.118G>A mutation, which is associated with the development of DM. Prevention of DM could be achieved with the help of strategies based on epidemiological and genetic testing

Perspectives d'una llei orgànica de protecció de les llengües minoritàries de la Província de Trento

A la regió autònoma de Trentino-Alto Adige/Tirol del Sud, zona multilingüe annexada a l’Estat italià l’any 1918, la protecció de la diversitat lingüística va arribar a tenir, a partir del final de la Segona Guerra Mundial i de la constitució democràtica republicana, una importància fundacional de les institucions autonòmiques. Aquesta s’ha anat desenvolupant de formes diferenciades entre les dues províncies de Bolzano i de Trento, cadascuna dotada d’amples poders d’autogovern: la província autònoma de Bolzano (Tirol del Sud) protegeix àmpliament el grup lingüístic majoritari alemany-tirolès i la minoria ladina present al seu territori (valls de Badia i de Gardena), mentre que a la província de Trento (majoritàriament de llengua italiana) el reconeixement jurídic de les tres minories lingüístiques incloses dintre dels seus límits, el ladí de Fassa, el moquen i el cimbrià (de llengua alemanya), ha tingut una trajectòria amb entrebancs i encara no s’ha aconseguit plenament. L’estudi evidencia el caràcter asistemàtic de les normes vigents sobre la matèria a la província autònoma de Trento, a causa de la concurrència de fonts normatives de rang divers, a vegades contraposades, de l’absència d’un únic projecte en el qual inspirar-se i de la manca de mecanismes adequats d’actuació i control. Per tant, es defensa la necessitat d’un projecte de reordenació de la matèria que, posant al dia els principis de protecció, pugui redefinir i actualitzar la implantació jurídica de les mesures a favor de les minories en el marc de la reforma institucional més extensa duta a terme, la qual preveu a la província de Trento una nova distribució de papers, funcions i competències entre el Govern central i les institucions locals (municipis, comunitats de la vall). Es configura així una llei orgànica de política lingüística basada en conceptes jurídics innovadors, que pugui establir drets i deures de les comunitats lingüístiques, precisant en la seva elaboració obligacions i responsabilitats dels diferents subjectes implicats

Ladinisches Wörterbuch - Vocabolario ladino (brach) - tedesco con traduzione italiana

Edizione del manoscritto ms. 13524 - Landesmuseum Ferdinandeum Innsbruck, a cura dell'Istitut Cultural Ladin, in collaborazione con l'Università di Innsbruc

Po sledeh ladinske pesmi: projekt Das Volkslied in Österreich med Ladinci na Tirolskem in v vzhodni Furlaniji (1904–1914)

The recovery of Theodor Gartner’s collection, which took place in 1995 thanks to Gerlinde Haid, enables us to form an image of the Ladin community at the beginning of the 20th century through the ethnophonic heritage and the cultural dynamics that characterized this linguistic minority. The publication of this collection allows us to better comprehend the dynamics of selection and transmission of the oral-tradition repertoire, and to perceive the effect of growing ethnolinguistic awareness. *** Ponovno odkritje Gartnerjeve zbirke, do katerega je prišlo leta 1995 po zaslugi Gerlinde Haid, nam pomaga orisati ladinsko skupnost na začetku 20. stoletja; pri tem sta nam v pomoč glasbenonarodopisna dediščina in kulturna dinamika, ki je označevala to jezikovno manjšino. Objava te zbirke nam pomaga bolje razumeti postopke selekcije in prenosa ustnega izročila, hkrati pa tudi učinek vse večje narodno-jezikovne zavesti

Die Briefwechsel von Karl Felix Wolff mit ladinischen Aktivisten aus Fassa

(VLID)436474

A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome.

Inherited bleeding disorders including abnormalities of platelet number and function rarely occur in a variety of dog breeds, but are probably underdiagnosed. Genetically characterized canine forms of platelet disorders provide valuable large animal models for understanding similar platelet disorders in people. Breed-specific disease associated genetic variants in only eight different genes are known to cause intrinsic platelet disorders in dogs. However, the causative genetic variant in many dog breeds has until now remained unknown. Four cases of a mild to severe bleeding disorder in Cocker Spaniel dogs are herein presented. The affected dogs showed a platelet adhesion defect characterized by macrothrombocytopenia with variable platelet counts resembling human Bernard-Soulier syndrome (BSS). Furthermore, the lack of functional GPIb-IX-V was demonstrated by immunocytochemistry. Whole genome sequencing of one affected dog and visual inspection of the candidate genes identified a deletion in the glycoprotein IX platelet (GP9) gene. The GP9 gene encodes a subunit of a platelet surface membrane glycoprotein complex; this functions as a receptor for von Willebrand factor, which initiates the maintenance of hemostasis after injury. Variants in human GP9 are associated with Bernard-Soulier syndrome, type C. The deletion spanned 2460 bp, and included a significant part of the single coding exon of the canine GP9 gene on dog chromosome 20. The variant results in a frameshift and premature stop codon which is predicted to truncate almost two-thirds of the encoded protein. PCR-based genotyping confirmed recessive inheritance. The homozygous variant genotype seen in affected dogs did not occur in 98 control Cocker Spaniels. Thus, it was concluded that the structural variant identified in the GP9 gene was most likely causative for the BSS-phenotype in the dogs examined. These findings provide the first large animal GP9 model for this group of inherited platelet disorders and greatly facilitate the diagnosis and identification of affected and/or normal carriers in Cocker Spaniels