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Article: Late-onset and classic phenotypes of Fabry disease in males with the

Valtola, Kati / Hedman, Marja / Kantola, Ilkka / Walls, Susanne / Helisalmi, Seppo / Maria, Maleeha / Raivo, Joose / Auray-Blais, Christiane / Kuusisto, Johanna

Open heart

2023 Volume 10, Issue 1

Abstract: Objective: To present phenotypic characteristics and biomarkers of a family with the rare mutation Thr410Ala of the : Methods and results: In a woman in her 60s with hypertrophic cardiomyopathy, T410A/: Conclusions: The T410A/ ...

Abstract	Objective: To present phenotypic characteristics and biomarkers of a family with the rare mutation Thr410Ala of the Methods and results: In a woman in her 60s with hypertrophic cardiomyopathy, T410A/ Conclusions: The T410A/
MeSH term(s)	Female ; Male ; Humans ; Fabry Disease/complications ; Fabry Disease/diagnosis ; Fabry Disease/genetics ; alpha-Galactosidase/genetics ; Mutation ; Phenotype ; Cardiomyopathy, Hypertrophic
Chemical Substances	alpha-Galactosidase (EC 3.2.1.22)
Language	English
Publishing date	2023-03-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2747269-3
ISSN	2053-3624
ISSN	2053-3624
DOI	10.1136/openhrt-2023-002251
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Article: Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study.

Ravi, Rowmika / Fernandes Silva, Lilian / Vangipurapu, Jagadish / Maria, Maleeha / Raivo, Joose / Helisalmi, Seppo / Laakso, Markku

Metabolites

2022 Volume 12, Issue 5

Abstract: Hypertrophic (HCM) and dilated (DCM) cardiomyopathies are among the leading causes of sudden cardiac death. We identified 38 pathogenic or likely pathogenic variant carriers for HCM in three sarcomere genes ( ...

Abstract	Hypertrophic (HCM) and dilated (DCM) cardiomyopathies are among the leading causes of sudden cardiac death. We identified 38 pathogenic or likely pathogenic variant carriers for HCM in three sarcomere genes (
Language	English
Publishing date	2022-05-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662251-8
ISSN	2218-1989
ISSN	2218-1989
DOI	10.3390/metabo12050437
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Article ; Online: NDUFA1 p.Gly32Arg variant in early-onset dementia.

Huttula, Samuli / Väyrynen, Henri / Helisalmi, Seppo / Kytövuori, Laura / Luukkainen, Laura / Hiltunen, Mikko / Remes, Anne M / Krüger, Johanna

Neurobiology of aging

2022 Volume 114, Page(s) 113–116

Abstract: Early-onset dementia (EOD) is highly heritable. However, in many EOD cases the genetic etiology remains unknown. Mitochondrial dysfunction is associated with neurodegeneration and the complex I (CI) deficiency is the most common enzyme deficiency in ... ...

Abstract	Early-onset dementia (EOD) is highly heritable. However, in many EOD cases the genetic etiology remains unknown. Mitochondrial dysfunction is associated with neurodegeneration and the complex I (CI) deficiency is the most common enzyme deficiency in diseases related to oxidative phosphorylation. The X-chromosomal NDUFA1 gene is essential for the activity of CI. Mutations in NDUFA1 are associated with mitochondrial diseases especially with Leigh syndrome. CI deficiency is also associated with neurodegenerative diseases, such as Alzheimer's disease (AD). The aim of this study was to evaluate the role of NDUFA1 variants in EOD patients. Next-generation sequencing panel was used to screen NDUFA1 variants in a cohort of 37 EOD patients with a family history of dementia or an atypical or rapidly progressive course of disease. We identified a hemizygous p.Gly32Arg variant in two brothers with AD. Subsequent screening of the variant in a larger cohort of EOD patients (n = 279) revealed three additional variant carriers (one male and two heterozygote females), suggesting that NDUFA1 variant p.Gly32Arg may play a role in neurodegenerative dementia.
MeSH term(s)	Alzheimer Disease/genetics ; Electron Transport Complex I/deficiency ; Female ; Humans ; Male ; Mitochondrial Diseases
Chemical Substances	Electron Transport Complex I (EC 7.1.1.2) ; NDUFA1 protein, human (EC 7.1.1.2)
Language	English
Publishing date	2022-01-21
Publishing country	United States
Document type	Journal Article
ZDB-ID	604505-4
ISSN	1558-1497 ; 0197-4580
ISSN (online)	1558-1497
ISSN	0197-4580
DOI	10.1016/j.neurobiolaging.2021.09.026
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Article ; Online: Novel Rare SORL1 Variants in Early-Onset Dementia.

Korpioja, Anita / Krüger, Johanna / Koivuluoma, Susanna / Pylkäs, Katri / Moilanen, Virpi / Helisalmi, Seppo / Hiltunen, Mikko / Remes, Anne M

Journal of Alzheimer's disease : JAD

2021 Volume 82, Issue 2, Page(s) 761–770

Abstract: Background: Rare variants of SORL1 have been associated with an increased risk of early-onset or late-onset Alzheimer's disease (AD). However, a lot remains to be clarified about their significance in the pathogenesis of the disease.: Objective: To ... ...

Abstract	Background: Rare variants of SORL1 have been associated with an increased risk of early-onset or late-onset Alzheimer's disease (AD). However, a lot remains to be clarified about their significance in the pathogenesis of the disease. Objective: To evaluate the role of SORL1 variants among Finnish patients with early-onset AD (EOAD). Methods: The rare SORL1variants were screened in a cohort of 115 Finnish EOAD patients (mean age at onset 58.3 years, range 46-65 years) by using the whole-exome sequencing. Results: We found one novel nonsense variant (p.Gln290) and eight missense variants in SORL1. This is the first study reporting the SORL1 variants p.Lys80Arg, p.Ala789Val and p.Arg866Gln in EOAD patients. Furthermore, two of these three missense variants were overrepresented in EOAD patients compared to gnomAD non-neuro Finnish samples. Conclusion:* This study strengthens the earlier findings, that the rare variants in SORL1 are associated with EOAD.
Language	English
Publishing date	2021-06-03
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-210207
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Article ; Online: Mutation Analysis of the Genes Associated with Parkinson's Disease in a Finnish Cohort of Early-Onset Dementia.

Luukkainen, Laura / Huttula, Samuli / Väyrynen, Henri / Helisalmi, Seppo / Kytövuori, Laura / Haapasalo, Annakaisa / Hiltunen, Mikko / Remes, Anne M / Krüger, Johanna

Journal of Alzheimer's disease : JAD

2020 Volume 76, Issue 3, Page(s) 955–965

Abstract: Background: Alzheimer's disease, frontotemporal lobar degeneration, dementia with Lewy bodies, and Parkinson's disease (PD) overlap in clinical characteristics, neuropathology, and genetics.: Objective: The aim of this study was to evaluate the role ... ...

Abstract	Background: Alzheimer's disease, frontotemporal lobar degeneration, dementia with Lewy bodies, and Parkinson's disease (PD) overlap in clinical characteristics, neuropathology, and genetics. Objective: The aim of this study was to evaluate the role of pathogenic mutations and rare variants in genes associated with PD among early-onset dementia (EOD) patients. Methods: Rare non-synonymous variants (MAF < 0.01) in ten genes (SNCA, PARK2, PARK7, LRRK2, PINK1, ATP13A2, UCHL1, HTRA2, GBA, and SNCAIP) and low-frequency (MAF < 0.05) GBA variants were screened using a targeted next-generation sequencing panel in a strictly defined cohort of 37 early-onset (age at onset (AAO) <65 years) dementia patients presenting with atypical features (e.g., myoclonia or spasticity), rapidly progressive course of the disease or with a family history of dementia. The identified variations were further screened in a larger cohort of EOD (n = 279, mean AAO 57, range 36-65) patients. Results: No pathogenic mutations were found, but we identified seven possible risk variants for neurodegeneration (LRRK2 p.Arg793Met, PARK2 p.Ala82Glu, SNCAIP p.Arg240Gln, SNCAIP p.Phe369Leu, GBA p.Asn409Ser, GBA p.Glu365Lys, GBA p.Thr408Met). Discussion: Altogether, the frequency of these variants was two times higher in the first selected cohort compared to the whole cohort. This suggests that specific rare variants in the genes associated with PD might play a role also especially in familial EOD.
MeSH term(s)	Adult ; Age of Onset ; Aged ; Alzheimer Disease/genetics ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Parkinson Disease/genetics
Language	English
Publishing date	2020-06-07
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-200069
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Article ; Online: Molecular epidemiology of hereditary ataxia in Finland.

Lipponen, Joonas / Helisalmi, Seppo / Raivo, Joose / Siitonen, Ari / Doi, Hiroshi / Rusanen, Harri / Lehtilahti, Maria / Ryytty, Mervi / Laakso, Markku / Tanaka, Fumiaki / Majamaa, Kari / Kytövuori, Laura

BMC neurology

2021 Volume 21, Issue 1, Page(s) 382

Abstract: Background: The genetics of cerebellar ataxia is complex. Hundreds of causative genes have been identified, but only a few cause more than single cases. The spectrum of ataxia-causing genes differs considerably between populations. The aim of the study ... ...

Abstract	Background: The genetics of cerebellar ataxia is complex. Hundreds of causative genes have been identified, but only a few cause more than single cases. The spectrum of ataxia-causing genes differs considerably between populations. The aim of the study was to investigate the molecular epidemiology of ataxia in the Finnish population. Patients and methods: All patients in hospital database were reviewed for the diagnosis of unspecified ataxia. Acquired ataxias and nongenetic ataxias such as those related to infection, trauma or stroke were excluded. Sixty patients with sporadic ataxia with unknown etiology and 36 patients with familial ataxia of unknown etiology were recruited in the study. Repeat expansions in the SCA genes (ATXN1, 2, 3, 7, 8/OS, CACNA1A, TBP), FXN, and RFC1 were determined. Point mutations in POLG, SPG7 and in mitochondrial DNA (mtDNA) were investigated. In addition, DNA from 8 patients was exome sequenced. Results: A genetic cause of ataxia was found in 33 patients (34.4%). Seven patients had a dominantly inherited repeat expansion in ATXN8/OS. Ten patients had mitochondrial ataxia resulting from mutations in nuclear mitochondrial genes POLG or RARS2, or from a point mutation m.8561C > G or a single deletion in mtDNA. Interestingly, five patients were biallelic for the recently identified pathogenic repeat expansion in RFC1. All the five patients presented with the phenotype of cerebellar ataxia, neuropathy, and vestibular areflexia (CANVAS). Moreover, screening of 54 patients with Charcot-Marie-Tooth neuropathy revealed four additional patients with biallelic repeat expansion in RFC1, but none of them had cerebellar symptoms. Conclusions: Expansion in ATXN8/OS results in the majority of dominant ataxias in Finland, while mutations in RFC1 and POLG are the most common cause of recessive ataxias. Our results suggest that analysis of RFC1 should be included in the routine diagnostics of idiopathic ataxia and Charcot-Marie-Tooth polyneuropathy.
MeSH term(s)	Cerebellar Ataxia ; Finland/epidemiology ; Humans ; Molecular Epidemiology ; Replication Protein C/genetics ; Spinocerebellar Degenerations
Chemical Substances	Replication Protein C (EC 3.6.4.-)
Language	English
Publishing date	2021-10-02
Publishing country	England
Document type	Journal Article
ISSN	1471-2377
ISSN (online)	1471-2377
DOI	10.1186/s12883-021-02409-z
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Article ; Online: Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype.

Katisko, Kasper / Huber, Nadine / Kokkola, Tarja / Hartikainen, Päivi / Krüger, Johanna / Heikkinen, Anna-Leena / Paananen, Veera / Leinonen, Ville / Korhonen, Ville E / Helisalmi, Seppo / Herukka, Sanna-Kaisa / Cantoni, Valentina / Gadola, Yasmine / Archetti, Silvana / Remes, Anne M / Haapasalo, Annakaisa / Borroni, Barbara / Solje, Eino

Alzheimer's research & therapy

2022 Volume 14, Issue 1, Page(s) 151

Abstract: Background: 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 patients, depending on their genetic ... ...

Abstract	Background: 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 patients, depending on their genetic background, are TDP-43 and tau. We aimed to evaluate whether total TDP-43 levels measured from the serum associate with the genotype or clinical phenotype of the FTD patients and whether serum TDP-43 provides prognostic or diagnostic value in the FTD spectrum disorders. Methods: The study cohort included 254 participants with a clinical diagnosis of FTD (including all major genotypes and clinical phenotypes) and 105 cognitively healthy controls. Serum total TDP-43 levels measured with a single-molecule array (Simoa) were compared within the FTD group according to the genotype, clinical phenotype, and predicted neuropathological subtype of the patients. We also evaluated the associations between the TDP-43 levels and disease severity or survival in FTD. Results: Total TDP-43 levels in the serum were significantly lower in the FTD group as compared to the healthy control group (275.3 pg/mL vs. 361.8 pg/mL, B = 0.181, 95%CI = 0.014-0.348, p = 0.034). The lowest TDP-43 levels were observed in the subgroup of FTD patients harboring predicted TDP-43 brain pathology (FTD-TDP, 241.4 pg/mL). The low levels in the FTD-TDP group were especially driven by C9orf72 repeat expansion carriers (169.2 pg/mL) and FTD patients with concomitant motoneuron disease (FTD-MND, 113.3 pg/mL), whereas GRN mutation carriers did not show decreased TDP-43 levels (328.6 pg/mL). Serum TDP-43 levels showed no correlation with disease severity nor progression in FTD. Conclusions: Our results indicate that the total levels of TDP-43 in the serum are decreased especially in FTD patients with the C9orf72 repeat expansion or FTD-MND phenotype, both subtypes strongly associated with TDP-43 type B brain pathology. Serum-based measurement of TDP-43 could represent a useful tool in indicating C9orf72 repeat expansion and FTD-MND-related TDP-43 neuropathology for future diagnostics and intervention studies.
MeSH term(s)	C9orf72 Protein/genetics ; DNA Repeat Expansion ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Frontotemporal Dementia/pathology ; Humans ; Motor Neuron Disease/genetics ; Motor Neuron Disease/metabolism ; Motor Neuron Disease/pathology ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Phenotype
Chemical Substances	C9orf72 Protein ; C9orf72 protein, human ; DNA-Binding Proteins ; TARDBP protein, human
Language	English
Publishing date	2022-10-11
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2506521-X
ISSN	1758-9193 ; 1758-9193
ISSN (online)	1758-9193
ISSN	1758-9193
DOI	10.1186/s13195-022-01091-8
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Article ; Online: Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration.

Luukkainen, Laura / Helisalmi, Seppo / Kytövuori, Laura / Ahmasalo, Riitta / Solje, Eino / Haapasalo, Annakaisa / Hiltunen, Mikko / Remes, Anne M / Krüger, Johanna

Journal of Alzheimer's disease : JAD

2019 Volume 69, Issue 3, Page(s) 775–782

Abstract: A lot of effort has been done to unravel the genetics underlying early-onset Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD). However, many familial early-onset dementia (EOD) cases still show an unclear genetic background. The aim ... ...

Abstract	A lot of effort has been done to unravel the genetics underlying early-onset Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD). However, many familial early-onset dementia (EOD) cases still show an unclear genetic background. The aim of this study was to evaluate the role of the known causative mutations and possible pathogenic variants associated with AD and FTLD in a Finnish EOD cohort. The cohort consisted of 39 patients (mean age at onset 54.8 years, range 39-65) with a positive family history of dementia or an atypical or rapidly progressive course of the disease. None of the patients carried the C9orf72 hexanucleotide repeat expansion. Mutations and variants in APP, PSEN1, PSEN2, MAPT, GRN, VCP, CHMP2B, FUS, TARDBP, TREM2, TMEM106B, UBQLN2, SOD1, PRNP, UBQLN1, and BIN1 were screened by using a targeted next generation sequencing panel. Two previously reported pathogenic mutations (PSEN1 p.His163Arg and MAPT p.Arg406Trp) were identified in the cohort. Both patients had familial dementia with an atypical early onset phenotype. In addition, a heterozygous p.Arg71Trp mutation in PSEN2 with an uncertain pathogenic nature was identified in a patient with neuropathologically confirmed AD. In conclusion, targeted investigation of the known dementia-linked genes is worthwhile in patients with onset age under 55 and a positive family history, as well as in patients with atypical features.
MeSH term(s)	Adult ; Age of Onset ; Aged ; Alzheimer Disease/genetics ; Causality ; Cognitive Dysfunction/genetics ; Cohort Studies ; DNA Mutational Analysis ; Disease Progression ; Female ; Finland ; Frontotemporal Lobar Degeneration/genetics ; Humans ; Male ; Middle Aged ; Phenotype ; Presenilin-1/genetics ; Presenilin-2/genetics ; tau Proteins/genetics
Chemical Substances	MAPT protein, human ; PSEN1 protein, human ; PSEN2 protein, human ; Presenilin-1 ; Presenilin-2 ; tau Proteins
Language	English
Publishing date	2019-05-22
Publishing country	Netherlands
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-181256
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Article: Detecting Amyloid Positivity in Elderly With Increased Risk of Cognitive Decline.

Pekkala, Timo / Hall, Anette / Ngandu, Tiia / van Gils, Mark / Helisalmi, Seppo / Hänninen, Tuomo / Kemppainen, Nina / Liu, Yawu / Lötjönen, Jyrki / Paajanen, Teemu / Rinne, Juha O / Soininen, Hilkka / Kivipelto, Miia / Solomon, Alina

Frontiers in aging neuroscience

2020 Volume 12, Page(s) 228

Abstract: The importance of early interventions in Alzheimer's disease (AD) emphasizes the need to accurately and efficiently identify at-risk individuals. Although many dementia prediction models have been developed, there are fewer studies focusing on detection ... ...

Abstract	The importance of early interventions in Alzheimer's disease (AD) emphasizes the need to accurately and efficiently identify at-risk individuals. Although many dementia prediction models have been developed, there are fewer studies focusing on detection of brain pathology. We developed a model for identification of amyloid-PET positivity using data on demographics, vascular factors, cognition,
Language	English
Publishing date	2020-07-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2558898-9
ISSN	1663-4365
ISSN	1663-4365
DOI	10.3389/fnagi.2020.00228
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Article ; Online: GFAP as a biomarker in frontotemporal dementia and primary psychiatric disorders: diagnostic and prognostic performance.

Katisko, Kasper / Cajanus, Antti / Huber, Nadine / Jääskeläinen, Olli / Kokkola, Tarja / Kärkkäinen, Virve / Rostalski, Hannah / Hartikainen, Paivi / Koivisto, Anne M / Hannonen, Sanna / Lehtola, Juha-Matti / Korhonen, Ville E / Helisalmi, Seppo / Koivumaa-Honkanen, Heli / Herukka, Sanna-Kaisa / Remes, Anne M / Solje, Eino / Haapasalo, Annakaisa

Journal of neurology, neurosurgery, and psychiatry

2021 Volume 92, Issue 12, Page(s) 1305–1312

Abstract: Background: Frontotemporal lobar degeneration (FTLD) and primary psychiatric disorders (PPD) are characterised by overlapping clinical features but different aetiologies. Here, we assessed for the first time the potential of blood glial fibrillar acidic ...

Abstract	Background: Frontotemporal lobar degeneration (FTLD) and primary psychiatric disorders (PPD) are characterised by overlapping clinical features but different aetiologies. Here, we assessed for the first time the potential of blood glial fibrillar acidic protein (GFAP), marker of astrogliosis, as a discriminative and prognostic tool in FTLD and PPD. Methods: The levels of GFAP in serum (sGFAP) of patients with FTLD (N=107) and PPD (N=44) and GFAP in whole blood samples (bGFAP) from FTLD (N=10), PPD (N=10) and healthy controls (N=18) were measured. We evaluated whether the sGFAP levels associate with Results: sGFAP and bGFAP levels were elevated in the FTLD group compared with the PPD or control groups. Receiver operating characteristic analysis indicated an excellent diagnostic performance between FTLD and PPD (the area under the curve (AUC)=0.820, 95% CI 0.745 to 0.896). sGFAP and bGFAP levels showed a strong correlation and elevated sGFAP levels significantly associated with atrophy rate in the temporal cortex and predicted shorter survival time in patients with FTLD. No association with Conclusions: sGFAP enabled differentiation of patients with FTLD and PPD and associated with shorter survival and more severe brain atrophy rate in patients with FTLD. These results suggest that blood-based GFAP represents a minimally invasive and useful biomarker in the differential diagnostics between patients with FTLD and PPD and in evaluating disease progression and astrogliosis in FTLD.
MeSH term(s)	Aged ; Atrophy/blood ; Atrophy/diagnostic imaging ; Biomarkers/blood ; Brain/diagnostic imaging ; Disease Progression ; Female ; Frontotemporal Dementia/blood ; Frontotemporal Dementia/diagnosis ; Frontotemporal Dementia/diagnostic imaging ; Glial Fibrillary Acidic Protein/blood ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Prognosis ; Sensitivity and Specificity ; Survival Rate
Chemical Substances	Biomarkers ; Glial Fibrillary Acidic Protein
Language	English
Publishing date	2021-06-29
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3087-9
ISSN	1468-330X ; 0022-3050
ISSN (online)	1468-330X
ISSN	0022-3050
DOI	10.1136/jnnp-2021-326487
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