22 Result(s)

Article

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light

Charcot-Marie-Tooth disease (CMT) is a heterogeneous set of hereditary neuropathies whose genetic causes are not fully understood. Here, we characterize three previously unknown variants in PMP22 and assess their...

Edouard Palu, Julius Järvilehto, Jana Pennonen, Nadine Huber… in neurogenetics (2023)

Article

Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi… in Nature Communications (2023)

Article

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated b...

Iris E. Jansen, Sven J. van der Lee, Duber Gomez-Fonseca… in Acta Neuropathologica (2022)

Article

Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype

Frontotemporal dementia (FTD) covers a spectrum of neurodegenerative disorders with various clinical and neuropathological subtypes. The two major pathological proteins accumulating in the brains of FTD patien...

Kasper Katisko, Nadine Huber, Tarja Kokkola… in Alzheimer's Research & Therapy (2022)

Article

Brainstem atrophy is linked to extrapyramidal symptoms in frontotemporal dementia

Extrapyramidal (EP) symptoms are a known feature in a subpopulation of patients with behavioral variant frontotemporal dementia (bvFTD). Concomitant EP symptoms with FTD-like neuropsychiatric symptoms are also...

Sami Heikkinen, Antti Cajanus, Kasper Katisko, Päivi Hartikainen… in Journal of Neurology (2022)

Article

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We per...

Céline Bellenguez, Fahri Küçükali, Iris E. Jansen, Luca Kleineidam… in Nature Genetics (2022)

Article

Deficient neurotransmitter systems and synaptic function in frontotemporal lobar degeneration—Insights into disease mechanisms and current therapeutic approaches

Frontotemporal lobar degeneration (FTLD) comprises a heterogenous group of fatal neurodegenerative diseases and, to date, no validated diagnostic or prognostic biomarkers or effective disease-modifying therapi...

Nadine Huber, Sonja Korhonen, Dorit Hoffmann, Stina Leskelä… in Molecular Psychiatry (2022)

Article

FTLD Patient–Derived Fibroblasts Show Defective Mitochondrial Function and Accumulation of p62

Frontotemporal lobar degeneration (FTLD) is a clinically, genetically, and neuropathologically heterogeneous group of neurodegenerative syndromes, leading to progressive cognitive dysfunction and frontal and t...

Stina Leskelä, Dorit Hoffmann, Hannah Rostalski, Nadine Huber… in Molecular Neurobiology (2021)

Article

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curat...

Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi… in Nature Communications (2021)

Article

Diabetic phenotype in mouse and humans reduces the number of microglia around β-amyloid plaques

Alzheimer’s disease (AD) is the most common neurodegenerative disease and type 2 diabetes (T2D) plays an important role in conferring the risk for AD. Although AD and T2D share common features, the common mole...

Teemu Natunen, Henna Martiskainen, Mikael Marttinen… in Molecular Neurodegeneration (2020)

Article

The Alzheimer’s disease-associated protective Plcγ2-P522R variant promotes immune functions

Microglia-specific genetic variants are enriched in several neurodegenerative diseases, including Alzheimer’s disease (AD), implicating a central role for alterations of the innate immune system in the disease...

Mari Takalo, Rebekka Wittrahm, Benedikt Wefers… in Molecular Neurodegeneration (2020)

Article

Serum neurofilament light chain is a discriminative biomarker between frontotemporal lobar degeneration and primary psychiatric disorders

Due to the significant clinical overlap between frontotemporal lobar degeneration (FTLD) spectrum disorders and late-onset primary psychiatric disorders (PPD), diagnostic biomarkers reflecting the different un...

Kasper Katisko, Antti Cajanus, Olli Jääskeläinen, Aleksi Kontkanen… in Journal of Neurology (2020)

Article

Peripheral inflammatory markers and clinical correlations in patients with frontotemporal lobar degeneration with and without the C9orf72 repeat expansion

In this study, our aim was to evaluate potential peripheral inflammatory changes in frontotemporal lobar degeneration (FTLD) patients carrying or not the C9orf72 repeat expansion. To this end, levels of several i...

Kasper Katisko, Eino Solje, Paula Korhonen, Olli Jääskeläinen… in Journal of Neurology (2020)

Article

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Brian W. Kunkle, Benjamin Grenier-Boley, Rebecca Sims, Joshua C. Bis… in Nature Genetics (2019)

Article

DHCR24 exerts neuroprotection upon inflammation-induced neuronal death

DHCR24, involved in the de novo synthesis of cholesterol and protection of neuronal cells against different stress conditions, has been shown to be selectively downregulated in neurons of the affected brain ar...

Henna Martiskainen, Kaisa M. A. Paldanius, Teemu Natunen… in Journal of Neuroinflammation (2017)

Article

Synaptic dysfunction and septin protein family members in neurodegenerative diseases

Cognitive decline and disease progression in different neurodegenerative diseases typically involves synaptic dysfunction preceding the neuronal loss. The synaptic dysfunction is suggested to be caused by imba...

Mikael Marttinen, Kaisa MA Kurkinen, Hilkka Soininen… in Molecular Neurodegeneration (2015)

Article

Regulation of key proteins in Alzheimer’s disease molecular pathogenesis by ubiquilin-1

Mari Takalo, Jayashree Viswanathan, Teemu Natunen… in Molecular Neurodegeneration (2013)