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Article ; Online: Alzheimer's disease with a CADASIL twist - neuropathological examination proves its value in clarifying the genetics behind familial dementia.

Myllykangas, Liisa

2023 Volume 452, Page(s) 120769

MeSH term(s)	Humans ; Alzheimer Disease/genetics ; CADASIL/diagnostic imaging ; CADASIL/genetics ; Nervous System Diseases
Language	English
Publishing date	2023-08-18
Publishing country	Netherlands
Document type	Editorial
ZDB-ID	80160-4
ISSN	1878-5883 ; 0022-510X ; 0374-8642
ISSN (online)	1878-5883
ISSN	0022-510X ; 0374-8642
DOI	10.1016/j.jns.2023.120769
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Article: Editorial: Neuropathology of COVID-19.

Myllykangas, Liisa

Frontiers in neurology

2023 Volume 14, Page(s) 1273866

Language	English
Publishing date	2023-08-31
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2023.1273866
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Article ; Online: Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Mönkäre, Saana / Kuuluvainen, Liina / Schleutker, Johanna / Myllykangas, Liisa / Pöyhönen, Minna

Acta neurologica Scandinavica

2022 Volume 146, Issue 5, Page(s) 643–651

Abstract: Objectives: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by pathogenic variants in the NOTCH3 gene. In Finland, the majority of CADASIL patients carry the ... ...

Abstract	Objectives: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by pathogenic variants in the NOTCH3 gene. In Finland, the majority of CADASIL patients carry the pathogenic founder variant c.397C>T, (p.Arg133Cys), but the spectrum of other NOTCH3 variants has not been investigated previously. The aim of the study was to investigate the spectrum and prevalence of NOTCH3 variants Finnish CADASIL patients and to examine the clinical features associated with them. Materials and methods: The spectrum of NOTCH3 variants and the clinical features associated with them were retrospectively examined in 294 Finnish CADASIL patients tested during January 1996 to October 2021 in the Medical Genetics laboratory of Department of Genomics of Turku University Hospital, where practically all samples of patients with suspected CADASIL in Finland are investigated. Results: The most common NOTCH3 variants in the study cohort were c.397C>T, (p.Arg133Cys) (68%) and c.3206A>G p.(Tyr1069Cys) (18%), but other less common NOTCH3 variants were detected in as many as 14% of the patients. Eight of the detected NOTCH3 variants were novel: c.520T>A,p.(Cys174Ser), c.836A>G,p.(Gln279Arg), c.1369T>G,p.(Cys457Gly), c.1338C>G,p.(Cys446Trp), c.1564T>G,p.(Cys522Gly), c.2848T>G,p.(Cys950Gly), c.6102dup,p.(Gly2035Argfs60), and c.2410+6C>G. Other NOTCH3 variants than p.Arg133Cys and p.Tyr1069Cys were more often associated with more severe clinical features. Conclusion:* This study revealed the genetic and clinical spectrum of CADASIL in the Finnish population. Sequencing of the whole NOTCH3 gene performing a gene-panel or exome sequencing is recommended when suspecting CADASIL.
MeSH term(s)	Humans ; CADASIL/genetics ; Finland/epidemiology ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Mutation ; Receptor, Notch3/genetics ; Receptors, Notch/genetics ; Retrospective Studies
Chemical Substances	NOTCH3 protein, human ; Receptor, Notch3 ; Receptors, Notch
Language	English
Publishing date	2022-09-09
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	90-5
ISSN	1600-0404 ; 0001-6314
ISSN (online)	1600-0404
ISSN	0001-6314
DOI	10.1111/ane.13703
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Article ; Online: Accumulation of Lewy-Related Pathology Starts in Middle Age: The Tampere Sudden Death Study.

Kok, Eloise H / Paetau, Anders / Martiskainen, Mika / Lyytikäinen, Leo-Pekka / Lehtimäki, Terho / Karhunen, Pekka / Myllykangas, Liisa

Annals of neurology

2024 Volume 95, Issue 5, Page(s) 843–848

Abstract: When effective treatments against neurodegenerative diseases become a reality, it will be important to know the age these pathologies begin to develop. We investigated alpha-synuclein pathology in brain tissue of the Tampere Sudden Death Study-unselected ...

Abstract	When effective treatments against neurodegenerative diseases become a reality, it will be important to know the age these pathologies begin to develop. We investigated alpha-synuclein pathology in brain tissue of the Tampere Sudden Death Study-unselected forensic autopsies on individuals living outside hospital institutions in Finland. Of 562 (16-95 years) participants, 42 were positive for Lewy-related pathology (LRP). The youngest LRP case was aged 54 years, and the frequency of LRP in individuals aged ≥50 years was 9%. This forensic autopsy study indicates LRP starts already in middle age and is more common than expected in the ≥50 years-of-age non-hospitalized population. ANN NEUROL 2024;95:843-848.
MeSH term(s)	Humans ; Middle Aged ; Aged, 80 and over ; Aged ; Male ; Female ; Finland/epidemiology ; Death, Sudden/pathology ; Adolescent ; Lewy Body Disease/pathology ; Lewy Body Disease/metabolism ; alpha-Synuclein/metabolism ; Adult ; Young Adult ; Brain/pathology ; Brain/metabolism ; Autopsy ; Lewy Bodies/pathology
Chemical Substances	alpha-Synuclein
Language	English
Publishing date	2024-03-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.26912
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Article: "Genetic code" of brain ageing.

Tienari, Pentti / Myllykangas, Liisa

Duodecim; laaketieteellinen aikakauskirja

2017 Volume 133, Issue 2, Page(s) 201–208

Abstract: Neurons are more susceptible than other cells to the effects of ageing, since most of them are not capable of dividing, and they consume plenty of energy. In the "genetic code of brain ageing", central role is played by the genes that regulate the risk ... ...

Abstract	Neurons are more susceptible than other cells to the effects of ageing, since most of them are not capable of dividing, and they consume plenty of energy. In the "genetic code of brain ageing", central role is played by the genes that regulate the risk of Alzheimer's disease and vascular diseases. Genes have been recognized underlying memory disorders and longevity. Genetic studies have revealed metabolic routes, including fat and energy metabolism, that can be influenced by an individual through living habits, and also through structures maintaining social activity.
MeSH term(s)	Age Factors ; Aging/genetics ; Brain Diseases/genetics ; Energy Metabolism ; Genetic Predisposition to Disease ; Healthy Lifestyle ; Humans ; Social Support
Language	English
Publishing date	2017
Publishing country	Finland
Document type	Journal Article ; Review
ZDB-ID	127604-9
ISSN	0012-7183
ISSN	0012-7183
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Article: Causes of Death of Professional Musicians in the Classical Genre.

Kuusi, Tuire / Haukka, Jari / Myllykangas, Liisa / Järvelä, Irma

Medical problems of performing artists

2019 Volume 34, Issue 2, Page(s) 92–97

Abstract: Objective: Music practice and listening have been reported to have favorable effects on human health, but empirical data are largely missing about these effects. To obtain more information about the effect of exposure to music from early childhood, we ... ...

Abstract	Objective: Music practice and listening have been reported to have favorable effects on human health, but empirical data are largely missing about these effects. To obtain more information about the effect of exposure to music from early childhood, we examined the causes of death of professional musicians in the classical genre. Methods: We used standardized mortality ratios (SMR) for Finnish performing artists (n=5,780) and church musicians (n=22,368) during 1981-2016. We examined deaths from cardiovascular diseases, cancers, and neurodegenerative and alcohol-related diseases. The diagnoses were based on the ICD-10, with data obtained from Statistics of Finland. Results: Overall, SMR for all-cause mortality was 0.59 (95% CI 0.57-0.61) for church musicians and 0.75 (95% CI 0.70-0.80) for performing artists, suggesting a protective effect of music for health. In contrast, we found increased mortality in alcohol-related diseases among female performing artists (SMR 1.85, 95% CI 1.06-2.95) and in neurodegenerative diseases among male performing artists (1.46, 95% CI 1.13-1.84). Additionally, we found higher SMRs for female than male church musicians for cancers (SMRfemales 0.90, 95% CI 0.83-0.97; SMRmales 0.60, 95% CI 0.54-0.67) and cardiovascular diseases (SMRfemales 0.75, 95% CI 0.68-0.82; SMRmales 0.58, 95% CI 0.54-0.64). Conclusions: Our results show that the causes of death in performers differ from those in church musicians. Performing artists are not protected from neurodegenerative diseases or alcohol-related deaths. The findings call for further study on the life-long effects of music in musicians.
MeSH term(s)	Cause of Death ; Female ; Finland ; Humans ; Male ; Music ; Occupational Diseases ; Occupations
Language	English
Publishing date	2019-06-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	639194-1
ISSN	0885-1158
ISSN	0885-1158
DOI	10.21091/mppa.2019.2016
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Article ; Online: Mucosal-Associated Invariant T Cells are not susceptible in vitro to SARS-CoV-2 infection but accumulate into the lungs of COVID-19 patients.

Huang, Xiaobo / Kantonen, Jonas / Nowlan, Kirsten / Nguyen, Ngoc Anh / Jokiranta, Suvi T / Kuivanen, Suvi / Heikkilä, Nelli / Mahzabin, Shamita / Kantele, Anu / Vapalahti, Olli / Myllykangas, Liisa / Heinonen, Santtu / Mäyränpää, Mikko I / Strandin, Tomas / Kekäläinen, Eliisa

Virus research

2024 Volume 341, Page(s) 199315

Abstract: Prolonged T cell lymphopenia is common in COVID-19, caused by SARS-CoV-2. While the mechanisms of lymphopenia during COVID-19 remain elusive, it is especially pronounced in a specialized innate-like T cell population called Mucosal Associated Invariant T ...

Abstract	Prolonged T cell lymphopenia is common in COVID-19, caused by SARS-CoV-2. While the mechanisms of lymphopenia during COVID-19 remain elusive, it is especially pronounced in a specialized innate-like T cell population called Mucosal Associated Invariant T cells (MAITs). MAITs has been suggested to express Angiotensin-Converting Enzyme 2 (ACE2), which is the well-known cellular receptor for SARS-CoV-2. However, it is still unclear if SARS-CoV-2 can infect or affect MAIT cells directly. In this study, we performed multicolor flow cytometry on peripheral blood mononuclear cells obtained from COVID-19 patients to assess the frequencies of CD8
MeSH term(s)	Humans ; Mucosal-Associated Invariant T Cells ; COVID-19 ; Angiotensin-Converting Enzyme 2 ; Leukocytes, Mononuclear ; SARS-CoV-2 ; Lung ; Lymphopenia
Chemical Substances	Angiotensin-Converting Enzyme 2 (EC 3.4.17.23)
Language	English
Publishing date	2024-01-13
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	605780-9
ISSN	1872-7492 ; 0168-1702
ISSN (online)	1872-7492
ISSN	0168-1702
DOI	10.1016/j.virusres.2024.199315
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Article ; Online: Genetic analysis reveals novel variants for vascular cognitive impairment.

Mönkäre, Saana / Kuuluvainen, Liina / Schleutker, Johanna / Bras, Jose / Roine, Susanna / Pöyhönen, Minna / Guerreiro, Rita / Myllykangas, Liisa

Acta neurologica Scandinavica

2022 Volume 146, Issue 1, Page(s) 42–50

Abstract: Objectives: The genetic background of vascular cognitive impairment (VCI) is poorly understood compared to other dementia disorders. The aim of the study was to investigate the genetic background of VCI in a well-characterized Finnish cohort.: ... ...

Abstract	Objectives: The genetic background of vascular cognitive impairment (VCI) is poorly understood compared to other dementia disorders. The aim of the study was to investigate the genetic background of VCI in a well-characterized Finnish cohort. Materials & methods: Whole-exome sequencing (WES) was applied in 45 Finnish VCI patients. Copy-number variant (CNV) analysis using a SNP array was performed in 80 VCI patients. This study also examined the prevalence of variants at the miR-29 binding site of COL4A1 in 73 Finnish VCI patients. Results: In 40% (18/45) of the cases, WES detected possibly causative variants in genes associated with cerebral small vessel disease (CSVD) or other neurological or stroke-related disorders. These variants included HTRA1:c.847G>A p.(Gly283Arg), TREX1:c.1079A>G, p.(Tyr360Cys), COLGALT1:c.1411C>T, p.(Arg471Trp), PRNP: c.713C>T, p.(Pro238Leu), and MTHFR:c.1061G>C, p.(Gly354Ala). Additionally, screening of variants in the 3'UTR of COL4A1 gene in a sub-cohort of 73 VCI patients identified a novel variant c.36T>A. CNV analysis showed that pathogenic CNVs are uncommon in VCI. Conclusions:* These data support pathogenic roles of variants in HTRA1, TREX1 and in the 3'UTR of COL4A1 in CSVD and VCI, and suggest that vascular pathogenic mechanisms are linked to neurodegeneration, expanding the understanding of the genetic background of VCI.
MeSH term(s)	3' Untranslated Regions ; Cerebral Small Vessel Diseases/complications ; Cognitive Dysfunction/complications ; Cognitive Dysfunction/genetics ; Dementia, Vascular/diagnosis ; Dementia, Vascular/genetics ; Genetic Testing ; High-Temperature Requirement A Serine Peptidase 1/genetics ; Humans ; Stroke/complications
Chemical Substances	3' Untranslated Regions ; High-Temperature Requirement A Serine Peptidase 1 (EC 3.4.21.-) ; HTRA1 protein, human (EC 3.4.21.-)
Language	English
Publishing date	2022-03-20
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	90-5
ISSN	1600-0404 ; 0001-6314
ISSN (online)	1600-0404
ISSN	0001-6314
DOI	10.1111/ane.13613
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Article ; Online: Neuropathological evidence of body-first vs. brain-first Lewy body disease.

Borghammer, Per / Horsager, Jacob / Andersen, Katrine / Van Den Berge, Nathalie / Raunio, Anna / Murayama, Shigeo / Parkkinen, Laura / Myllykangas, Liisa

Neurobiology of disease

2021 Volume 161, Page(s) 105557

Abstract: Aggregation of alpha-synuclein into inclusion bodies, termed Lewy pathology, is a defining feature of Parkinson's disease (PD) and Dementia with Lewy bodies (DLB). In the majority of post mortem cases, the distribution of Lewy pathology seems to follow ... ...

Abstract	Aggregation of alpha-synuclein into inclusion bodies, termed Lewy pathology, is a defining feature of Parkinson's disease (PD) and Dementia with Lewy bodies (DLB). In the majority of post mortem cases, the distribution of Lewy pathology seems to follow two overarching patterns: a caudo-rostral pattern with relatively more pathology in the brainstem than in the telencephalon, and an amygdala-centered pattern with the most abundant pathology in the "center of the brain", including the amygdala, entorhinal cortex, and substantia nigra, and relatively less pathology in the lower brainstem and spinal autonomic nuclei. The recent body-first versus brain-first model of Lewy Body Disorders proposes that the initial pathogenic alpha-synuclein in some patients originates in the enteric nervous system with secondary spreading to the brain; and in other patients originates inside the CNS with secondary spreading to the lower brainstem and peripheral autonomic nervous system. Here, we use two existing post mortem datasets to explore the possibility that clinical body-first and brain-first subtypes are equivalent to the caudo-rostral and amygdala-centered patterns of Lewy pathology seen at post mortem.
MeSH term(s)	Brain/metabolism ; Brain Stem/metabolism ; Humans ; Lewy Body Disease/pathology ; Parkinson Disease/pathology ; Substantia Nigra/metabolism ; alpha-Synuclein/metabolism
Chemical Substances	alpha-Synuclein
Language	English
Publishing date	2021-11-08
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1211786-9
ISSN	1095-953X ; 0969-9961
ISSN (online)	1095-953X
ISSN	0969-9961
DOI	10.1016/j.nbd.2021.105557
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Article ; Online: Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene.

Verkkoniemi-Ahola, Auli / Kuuluvainen, Liina / Kivirikko, Sirpa / Myllykangas, Liisa / Pöyhönen, Minna

Journal of the neurological sciences

2019 Volume 408, Page(s) 116555

MeSH term(s)	Adult ; Heterozygote ; Humans ; Male ; Mutation/genetics ; Neuroacanthocytosis/blood ; Neuroacanthocytosis/diagnostic imaging ; Neuroacanthocytosis/genetics ; Vesicular Transport Proteins/genetics
Chemical Substances	VPS13A protein, human ; Vesicular Transport Proteins
Language	English
Publishing date	2019-10-31
Publishing country	Netherlands
Document type	Case Reports ; Letter
ZDB-ID	80160-4
ISSN	1878-5883 ; 0022-510X ; 0374-8642
ISSN (online)	1878-5883
ISSN	0022-510X ; 0374-8642
DOI	10.1016/j.jns.2019.116555
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