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

Sorina Gorcenco, Komulainen-Ebrahim, J., Nordborg, K., Suo-Palosaari, M., Sten Andréasson, Krüger, J., Nilsson, C., Kjellström, U., Rahikkala, E., Turkiewicz, D., Mikael Karlberg, Nilsson, L., Cammenga, J., Ulf Tedgård, Josef Davidsson, Uusimaa, J. & Andreas Puschmann 2017 Oct In : Neurology. Genetics. 3, 5, 7 p., e183

Research output: Contribution to journalArticle

Andreas Puschmann 2017 Sep 1 In : Current Neurology and Neuroscience Reports. 17, p. 1-11 66

Research output: Contribution to journalReview article

Perez-Soriano, A., Arena, J. E., Sossi, V., Dinelle, K., Miao, Q., McKenzie, C. J., Neilson, N., A. Puschmann, Schaffer, P., Shinotoh, H., Smith-Forrester, J., Shahinfard, E., Vafai, N., Wile, D., Wszolek, Z. K., Higuchi, M. & Stoessl, A. J. 2017 Jun 1 In : Movement Disorders. 32, Suppl 2, p. 585-587

Research output: Contribution to journalPublished meeting abstract

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