Mitochondrial dysfunction in clinical neurology: prevalence, molecular genetics, and clinical phenotypes

​Description of research

We aim at expanding our understanding of human mitochondrial disorders, including the associated genetic backgrounds, clinical phenotypes, and
the natural history of these disorders. We are also investigating the role of mitochondrial dysfunction in other neurogenetic and neurodegenerative
conditions, such as some forms of Charcot-Marie-Tooth disease and hereditary spastic paraplegia

Members of the research group

​Laura Kytövuori M.Sc.
Markus Lindroos M.D., Ph.D.
Maria Gardberg M.D., Ph.D.

Selected publications

Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurol 2016; 73: 668-674. 

Martikainen MH, Päivärinta M, Hietala M, Kaasinen V. Clinical and imaging findings
in Parkinson’s disease associated with the A53E SNCA mutation. Neurol Genet 2015; 1: e27. Epub 2015 Oct 15.

Martikainen MH, Chinnery PF. Mitochondrial disease: mimics and chameleons. Pract Neurol 2015; 15: 424–435. Epub 2015 Jul 22. Review.

Martikainen MH, Rönnemaa T, Majamaa K. Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study. Acta Diabetol 2013; 50: 737–741. Epub 2012 Apr 11.

Martikainen MH, Hinttala R, Röyttä M, Jääskeläinen S, Wendelin-Saarenhovi M, Parkkola R, Majamaa K. Progressive external ophthalmoplegia in southwestern
Finland: a clinical and genetic study. Neuroepidemiology 2012; 38: 114–119. Epub 2012 Feb 24.