The ALS research group at Umeå University performs genetic, SOD1, proteomic and metabolomic research, as well as iPS research. The mail focus has become studying misfolding properties of mutant and non-mutant SOD1 and the formation of misfolded SOD1 species in human tissues as well as in tg-mice. The group is also involved in two JPND projects NEEDS in ALS and ONWEBDUALS. In 2017 the group consists of approx. 18 researchers and 12 technicians and research nurses. The ALS Clinical Center was established in 1992 at Umeå University Hospital (“NUS”) and is the principal center for diagnosing and caring of patients with neuromuscular diseases in northern Sweden. The clinical team also performs second-opinion evaluations of patients from other parts of Sweden and from abroad.
| Umeå University | |
|---|---|
| Foundation year | 1992 |
| Director | Prof. Peter M. Andersen, MD; PhD |
| Principal investigator | Prof. Peter M. Andersen, Prof. Stefan Marklund, Prof. Thomas Brännström |
| Contact information | |
|---|---|
| Address | Analysvägen |
| Contact | Prof. Dr. P. Andersen |
| Phone | +46 70 6476913 |
| Fax | +46 90 143107 |
| peter.andersen@umu.se | |
| Website | Visit the website |
Publications
- Comprehensive mutational analysis to explain reduced or increased SOD1 enzymatic activity in erythrocystes from ALS patients and their relatives. Keskin I, Birve A, Berdynski M, Hjertkvist K, Rofougaran R, Nilsson TK, Marklund SL, Andersen PM. Amytrophic lateral sclerosis & Fronto-temporal degeneration. In press February 2017.
- Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-prime PCR interpretation: A large multinational screening study. Nordin A, Akimoto C, Wuolikainen, Nordin A, Alstermark H, Forsberg K, Baumann P, Pinto S, de Carvalho M, Hübers A-M, Ludolph AC, Weishaupt J, Meyer T, Grehl T, Schweikert K, Weber M, Burkhardt C, Neuwirt C, Holme T, Morita M, Tysnes O-B, Benatar M, Wuu J, Lange D, Bisgård C, Asgari N, Tarvainen I, Brännström T, Andersen PM. Amyotroph Lateral Scler Frontotemporal Degener 2016 (Epub ahead of print December 12, 2016).
- Pre-symptomatic ALS Genetic Counseling and testing: Experience and recommendations. Benatar M, Stanislaw C, Reyes E, Hussain S, Cooley A, Fernandez MC, Dauphin D, Michon A-C, Andersen PM, Wuu J. Neurology 2016;86:2295-302.
- Inoculated SOD1 aggregate strain transmits amyotrophic lateral sclerosis with templated aggregation. Bidhendi EE, Bergh J, Zetterström P, Andersen PM, Marklund SL, Brännström T. J Clin Invest. 2016;126:2249-53.
- Two superoxide dismutase prion strains transmit amyotrophic lateral sclerosis-like disease. Bidhendi EE, Bergh J, Zetterström P, Andersen PM, Marklund SL, Brännström T. J Clin Invest. 2016 Jun 1;126(6):2249-53. doi: 10.1172/JCI84360. PMID: 27140399.
For more publications, see PubMed.
Restricted information
| Serving population | |
|---|---|
| Serving population | Primarily Sweden |
| Patient resources | |
|---|---|
| Population based register | Yes |
| Clinic based register | Yes |
| Geographically matched controls | Yes |
| Number of skin samples | 80 |
Banks
| Type | ALS Patients | Controls | Other |
|---|---|---|---|
| DNA bank | 2800 | 9200 | |
| CSF | 350 |
| Research activities | |
|---|---|
| Clinical management research | Yes |
| Neuro epidemiology | Yes |
| Neuro physiology | Yes |
| Neuro imaging | No |
| Neuro psychology | Yes |
| Neuro pathology | Yes |
| Genomics | No |
| Transcriptomics | No |
| Metabolomics | Yes |
Clinical Trials - Industry sponsored
| Name | Type | Patients |
|---|---|---|
| Antisense-oligo nulceatode therapy in SOD1-mutated ALS | Antisense-oligo nulceatode therapy in SOD1-mutated ALS |
Clinical Trials - Investigator initiated
| Name | Type | Patients |
|---|---|---|
| Pyrimethamine in SOD1-mutant ALS | Pyrimethamine in SOD1-mutant ALS |