Clinical Neurogenetics

Organisational unit: Research group

Research areas and keywords

UKÄ subject classification

  • Neurology

Keywords

  • Parkinson disease, stroke, dementia, dystonia, ataxia

Research

Many neurological disorders have a genetic cause or are markedly influenced by genetic factors. At the Department for Neurology, Skåne University Hospital, we examine patients with neurological disorders within research studies and elucidate contributing or causative genetic factors. Ongoing studies include patients with, for example, Parkinson disease, dystonia, ataxia, hereditary causes of dementia or stroke, with a special emphasis on kindred with familial forms of these diseases. We investigate how common the known genetic causes of neurological disorders are in Sweden. The aim of our research is to identify new gene mutations that cause these diseases and to understand how gene mutations affect cellular mechanisms. Unravelling the molecular disease mechanism lays the foundation for the development of novel therapies. We also improve strategies for clinical genetic testing and information on genetic neurological disorders to neurologists, patients and families.

Recent research outputs

Puschmann, A., Jiménez-Ferrer, I., Lundblad-Andersson, E., Mårtensson, E., Hansson, O., Odin, P., Widner, H., Brolin, K., Mzezewa, R., Kristensen, J., Soller, M., Rödström, E. Y., Ross, O. A., Toft, M., Breedveld, G. J., Bonifati, V., Brodin, L., Zettergren, A., Sydow, O., Linder, J. & 6 othersWirdefeldt, K., Svenningsson, P., Nissbrandt, H., Belin, A. C., Forsgren, L. & Maria Swanberg, 2019 Jul 31, In : Parkinsonism and Related Disorders.

Research output: Contribution to journalArticle

Sorina Gorcenco, Vaz, F. M., Tracewska-Siemiatkowska, A., Tranebjærg, L., Cremers, F. P. M., Emil Ygland, Kicsi, J., Rendtorff, N. D., Möller, C., Kjellström, U., Sten Andréasson & Andreas Puschmann, 2019, In : Parkinsonism & Related Disorders. 61, p. 245-247 3 p.

Research output: Contribution to journalLetter

International Parkinsonism Genetics Network, Ferreira, J., Cossu, G., Lu, C-S., Meco, G., Cortelli, P., van de Berg, W. D. J. & Bonifati, V., 2018 Jul, In : The Lancet Neurology. 17, 7, p. 597-608

Research output: Contribution to journalArticle

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