Anna H. Hakonen
University of Helsinki
17 Papers
42 Citations
Anna H. Hakonen is an academic researcher from University of Helsinki. The author has contributed to research in topics: Ataxia & Medicine. The author has an hindex of 11, co-authored 17 publications.
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Papers
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Anu Suomalainen,Anu Suomalainen,Jenni M. Elo,Kirsi H. Pietiläinen,Anna H. Hakonen,Ksenia Sevastianova,Mari Päivikki Korpela,Pirjo Isohanni,Pirjo Isohanni,Sanna Marjavaara,Tiina Tyni,Tiina Tyni,Sari Kiuru-Enari,Helena Pihko,Niklas Darin,Katrin Õunap,Leo A. J. Kluijtmans,Anders Paetau,Jana Buzkova,Laurence A. Bindoff,Johanna Annunen-Rasila,Johanna Uusimaa,Aila Rissanen,Hannele Yki-Järvinen,Michio Hirano,Mar Tulinius,Jan A.M. Smeitink,Henna Tyynismaa +27 more
TL;DR: Measurement of FGF-21 concentrations in serum identified primary muscle-manifesting respiratory chain deficiencies in adults and children and might be feasible as a first-line diagnostic test for these disorders to reduce the need for muscle biopsy.
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Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
Anna H. Hakonen,Silja Heiskanen,Vesa Juvonen,Ilse Lappalainen,Petri Luoma,Maria Rantamäki,Gert Van Goethem,Ann Löfgren,Peter Hackman,Anders Paetau,Seppo Kaakkola,Kari Majamaa,Teppo Varilo,Bjarne Udd,Helena Kääriäinen,Laurence A. Bindoff,Anu Suomalainen +16 more
TL;DR: The high carrier frequency in Finland, the high number of patients in Norway, and the ancient European founder chromosome indicate that this newly identified ataxia should be considered in the first-line differential diagnosis of progressive atAXia syndromes.
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Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.
Jana Buzkova,Joni Nikkanen,Sofia Ahola,Anna H. Hakonen,Ksenia Sevastianova,Ksenia Sevastianova,Topi Hovinen,Hannele Yki-Järvinen,Hannele Yki-Järvinen,Kirsi H. Pietiläinen,Kirsi H. Pietiläinen,Tuula Lönnqvist,Vidya Velagapudi,Christopher Carroll,Christopher Carroll,Anu Suomalainen +15 more
TL;DR: The omics approach identified pathways currently used to treat NMDs and mitochondrial stroke‐like episodes and proposes nicotinamide riboside in MDs and IBM, and creatine in IOSCA and IBM as novel treatment targets.
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POLG1 manifestations in childhood
Pirjo Isohanni,Anna H. Hakonen,Liliya Euro,Ilse Paetau,Tarja Linnankivi,Elina Liukkonen,Tiina Wallden,L. Luostarinen,Leena Valanne,Anders Paetau,Johanna Uusimaa,Tuula Lönnqvist,Anu Suomalainen,Helena Pihko +13 more
TL;DR: POLG1 analysis should belong to the first-line DNA diagnostic tests for children with an encephalitis-like presentation evolving into epileptic encephalopathy with liver involvement (Alpers syndrome), even if brain MRI and morphology, respiratory chain activities, and the amount of mitochondrial DNA in the skeletal muscle are normal.
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A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).
Karien Esterhuizen,J. Zander Lindeque,Shayne Mason,Francois H. van der Westhuizen,Anu Suomalainen,Anna H. Hakonen,Christopher Carroll,Richard J. Rodenburg,Paul de Laat,Mirian C. H. Janssen,Jan A.M. Smeitink,Roan Louw +11 more
TL;DR: It is shown that urine may be a useful source for disease-specific metabolomics data, linking, amongst others, altered one-carbon metabolism to MELAS, and stalled fatty acid oxidation prevailed as being particularly disturbed.
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