At the Hannes Lohi Lab (University of Helsinki, Finland), we are continuously studying the genetics of canine epilepsy and paroxysmal dyskinesia. For more information and detailed participation instructions, please visit the pages for each project: epilepsy, paroxysmal dyskinesia.
We also regularly have ongoing breed-specific projects on the genetics of rarer neurological diseases. These have included, for example, cerebellar ataxia, neuroaxonal dystrophy, and hyperekplexia. On the Active Projects page, you can see if we currently have an ongoing breed-specific study for your dog’s breed.
How to Participate
We welcome samples from all dogs that have been diagnosed with a neurological disease. Samples from close relatives of affected dogs are also important (for example, parents, siblings, and offspring).
We are particularly interested in cases where several closely related dogs (for example, littermates) show similar neurological signs. If this applies to your dog, please contact the contact persons listed below.
1. Send us a blood sample from your dog. The sample can be taken, for example, during a regular visit to your veterinarian. Please see the instructions via the link below.
2. Send any additional information and attachments by email. These may include, for example, veterinary records and pathology reports. Please send any attachments to lgl-kyselyt@helsinki.fi.
3. We also encourage you to fill in the Dog Behaviour and Personality questionnaire. Information about behaviour helps us better understand the background of neurological diseases. In addition, your dog’s sample can then also be used in behaviour genetics studies.
If your dog has epilepsy or dyskinesia, we also ask you to fill in the Epilepsy and Dyskinesia questionnaire. Please visit the project pages for more detailed participation instructions (epilepsy, dyskinesia).
Contact Persons
Co-PI Marjo Hytönen (marjo.hytonen@helsinki.fi)
Doctoral researcher Tiina Harmas (tiina.heinonen@helsinki.fi)
Publications
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia. Heinonen T, Flegel T, Müller H, Kehl A, Hundi S, Matiasek K, Fischer A, Donner J, Forman OP, Lohi H, Hytönen MK. Hum Genet. 2023 May 24. The University of Helsinki’s press release about the research (in Finnish): ”Säpsähdyttävä geenilöytö koirista – hermostosairauden syy selvitetty”
A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Kere J, Lohi H, Leeb T. PLoS Genet. 2015 Apr 15;11(4):e1005169. doi: 10.1371/journal.pgen.1005169. eCollection 2015 Apr.
A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H. PLoS Genet. 2012;8(6):e1002759. Epub 2012 Jun 14.
