Genetische test ontwikkeld voor spasticiteit bij sphynxen en rexen

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Lid geworden op: wo 09 dec 2009, 10:23
Locatie: Oldebroek

Genetische test ontwikkeld voor spasticiteit bij sphynxen en rexen

Berichtdoor Clemmetje » vr 12 jun 2015, 16:26


RESULTS FROM 99lives SEQUENCING:Devon Rex and Sphynx “Spasticity”


Veterinary Genetics Lab -UCDavis


University of Milan

Devon Rex and Sphynx “Spasticity”

A recessive mutation that causes a congenital muscle weakness, “myopathy” in Devon rex and Sphynx cats has been discovered by a world-wide research team of geneticists and neurologists from the University of Missouri, the University of California – Davis, the University of California -San Diego, the University of Sydney and the University of Milan. The mutation affects a gene, COLQ, which causes a congenital myasthenic syndrome (CMS) that is similar to humans.

Affected cats present with passive ventroflexion of the head and neck, head bobbing, scapulae protrusion, megaesopahagus, generalized muscle weakness and fatigability. The disease likely started in Devon Rex and spread to Sphynx. Cats show prominent lordosis and generally succumb to the disease by asphyxiation due to choking on food or aspiration pneumonia by two years of age. Signs became evident at three to 23 weeks of age and then usually progressed slowly or remained static. Cats must have 2 copies of the mutation to have disease.

Moderately to severely affected cats show evidence of more generalized muscle weakness, particularly following exertion, stress or excitement. Typically they have a high-stepping forelimb gait, head bobbing and progressive dorsal protrusion of the scapulae. Affected cats tire easily with exercise, with progressive shortening of the stride and superimposed tremor. Eventually they collapse in sternal recumbency, typically with the head coming to rest on, or to one side of, their front paws. Affected cats frequently adopt a characteristic ‘dog-begging’ or “chipmunk” position, usually with their front legs resting on a convenient object.

The disease was first described in the UK in 1989 with detailed presentations from Australia in 1993. Cats have been identified in the USA and more recently across Europe.

Read more in these papers:

Robinson R (1992) 'Spasticity'in the Devon rex cat. Veterinary Record 132: 302.

Lievesley P, Gruffydd-Jones T (1989) Episodic collapse and weakness in cats. Veterinary Annual 29:261-269

Malik R, Mepstead K, Yang F, Harper C (1993) Devon rex cats. Journal of Small Animal Practice 34:539-546

Shelton GD, Sturges B, Lyons L, Williams DC, Aleman M, Jiang Y, Mizisin A (2007) Myopathy with tubulin-reactive inclusions in two cats. Acta Neuropathol 114 (5):537-542.

Martin PT, Shelton GD, Dickinson PJ, Sturges BK, Xu R, LeCouteur RA, Guo LT, Grahn RA, Lo HP, North KN (2008) Muscular dystrophy associated with α-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscular Disorders 18 (12):942-952

We appreciate the assistance of Nicholas Gustafson, the strong and long-standing dedication of cat breeders Sybil Drummond and Pam Dowlings, Paolo Valiati, and the Italian Feline Biobank-Vetogene.


Funding was provided by the National Center for Research Resources R24 RR016094 and is currently supported by the Office of Research Infrastructure Programs/OD R24OD010928, the University of Missouri – Columbia Gilbreath-McLorn Endowment, the Winn Feline Foundation (W10 -014 , W11-041, MT13-010), the Phyllis and George Miller Trust (MT08-015), the University of California – Davis, Center for Companion Animal Health (2008-36-F, 2008-06-F) and the Cat Health Network (D12FE-510) (LAL). Richard Malik is supported by the Valentine Charlton Bequest.

Van Antagene kreeg ik vandaag onderstaande mail:

Les recherches menées par le Dr Marie Abitbol (ENVA) en collaboration avec l'équipe du Dr Stéphane Blot (service de Neurobiologie ENVA) et ANTAGENE ont permis d'identifier la mutation responsable de la spasticité, également appelée myopathie, chez le Devon Rex et le Sphynx.

Cette maladie grave s'exprime avant 5 mois par une faiblesse musculaire, une fatigue importante, des difficultés locomotrices, une saillie des omoplates et port de tête bas avec le cou incurvé vers le bas.

Le développement du test génétique est en cours, nous serons en mesure de vous le proposer dès début juillet. Vous pouvez déjà le pré-commander en remplissant le formulaire de pré-commande

Le LOOF a attribué un financement au Dr Marie Abitbol pour mener ce programme de recherche.

Hieronder de vertaling van Google Translate:

Onderzoek uitgevoerd door Dr. Marie Abitbol (ENVA) in samenwerking met het team van Dr. Stéphane Blot (dienst Neurobiologie ENVA) en Antagene hebben de mutatie geïdentificeerd die verantwoordelijk zijn voor spasticiteit, ook wel myopathie, met Devon Rex en de Sphynx.

Deze ernstige ziekte wordt uitgedrukt eerste vijf maanden van spierzwakte, ernstige vermoeidheid, motorische problemen, uitstekende schouderbladen en lage hoofd wagen met gebogen nek naar beneden.

De ontwikkeling van genetische tests aan de gang is, zullen we in staat zijn om u begin juli te bieden. U kunt nu al pre-order door het invullen van de pre-order formulier

LOOF gehonoreerd Dr. Marie Abitbol om dit onderzoeksprogramma uit te voeren
Groetjes Clem

Berichten: 25904
Lid geworden op: do 05 nov 2009, 18:47

Re: Genetische test ontwikkeld voor spasticiteit bij sphynxen en rexen

Berichtdoor Wil » vr 12 jun 2015, 19:15

Top Clem dat zou geweldig wezen echt super ,,
Groetjes Wil

Hier wordt niet geshopt voor een goede test

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