Finnish neuroscience from past to present

Korpi, Esa R.; Lindholm, Dan; Panula, Pertti; Tienari, Pentti J.; Haltia, Matti

doi:10.1111/ejn.14693

Cited by 3 publications

(3 citation statements)

References 144 publications

(149 reference statements)

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“…The mutation p.D91A was absent in our study and absent in southeastern Chinese demographic, and only one case with p.A5V mutation was found. However, approximately 30% of all Finnish ALS patients have p.D91A mutation, and the p.A5V accounts for almost half in SOD1 mutations in the United States ( Bali et al, 2017 ; Korpi et al, 2020 ). Notably, SOD1 A5V is a relatively homogeneous form exclusively with aggressive progression and short disease duration ( Bali et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China

Chen

Wang

et al. 2021

Front. Genet.

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Background: Mutations in superoxide dismutase 1 gene (SOD1) are the most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) in the Chinese population. A detailed natural history of SOD1-mutated ALS patients will provide key information for ongoing genetic clinical trials.Methods: We screened for SOD1 mutations using whole exome sequencing (WES) in Chinese ALS cases from 2017 to 2021. Functional studies were then performed to confirm the pathogenicity of novel variants. In addition, we enrolled previously reported SOD1 mutations in our centers from 2007 to 2017. The SOD1 mutation spectrum, age at onset (AAO), diagnostic delay, and survival duration were analyzed.Results: We found two novel SOD1 variants (p.G17H and p.E134*) that exerted both gain-of-function and loss-of-function effects in vitro. Combined with our previous SOD1-mutated patients, 32 probands with 21 SOD1 mutations were included with the four most frequently occurring mutations of p.V48A, p.H47R, p.C112Y, and p.G148D. SOD1 mutations account for 58.9% of familial ALS (FALS) cases. The mean (SD) AAO was 46 ± 11.4 years with a significant difference between patients carrying mutations in exon 1 [n = 5, 34.6 (12.4) years] and exon 2 [n = 8, 51.4 (8.2) years] (p = 0.038). The mean of the diagnostic delay of FALS patients is significantly earlier than the sporadic ALS (SALS) patients [9.5 (4.8) vs. 20.3 (9.3) years, p = 0.0026]. In addition, male patients survived longer than female patients (40 vs. 16 months, p = 0.05).Conclusion: Our results expanded the spectrum of SOD1 mutations, highlighted the mutation distribution, and summarized the natural history of SOD1-mutated patients in southeastern China. Male patients were found to have better survival, and FALS patients received an earlier diagnosis. Our findings assist in providing a detailed clinical picture, which is important for ongoing genetic clinical trials.

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Section: Discussionmentioning

confidence: 99%

SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China

Chen

Wang

et al. 2021

Front. Genet.

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“…Therefore, the frequency of speci c mutations can vary among different regions. For example, approximately 30% of all Finnish ALS patients have p.D91A mutation and the p.A5V accounts for almost half in SOD1 mutations in the United States (13,14).…”

Section: Discussionmentioning

confidence: 99%

SOD1 mutation spectrum and natural history of ALS patients in a 15-year Cohort in Southeastern China

Chen

Wang

et al. 2021

Preprint

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Background Mutations in superoxide dismutase 1 gene (SOD1) are the most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) in the Chinese population. A detailed natural history of SOD1-mutated ALS patients will provide key information for ongoing genetic clinical trials. Methods We screened for SOD1 mutations using whole exome sequencing (WES) in Chinese ALS cases from 2017 to 2021. Functional studies were then performed to confirm the pathogenicity of novel variants. In addition, we enrolled previously reported SOD1 mutations in our centers from 2007 to 2017. The SOD1 mutation spectrum, age at onset (AAO), diagnostic delay, and survival duration were analyzed. Results We found two novel SOD1 variants (p.G17H and p.E134*) that exerted both gain-of-function and loss-of-function effects in vitro. Combined with our previous SOD1-mutated patients, thirty-two probands with 21 SOD1 mutations were included with the four most frequently occurring mutations of p.V48A, p.H47R, p.C112Y, and p.G148D. SOD1 mutations account for 58.9% of familial ALS (FALS) cases. The mean (SD) AAO was 46 ± 11.4 years with a significant difference between patients carrying mutations in exon 1 [n = 5, 34.6 (12.4) years] and exon 2 [n = 8, 51.4 (8.2) years] (p = 0.038). The mean of the diagnostic delay of FALS patients is significantly earlier than the sporadic ALS (SALS) patients [9.5 (4.8) years vs 20.3 (9.3) years, p = 0.0026]. In addition, male patients survived longer than female patients (40 months vs 16 months, p = 0.05). Conclusion Our results expanded the spectrum of SOD1 mutations, highlighted the mutation distribution, and summarized the natural history of SOD1-mutated patients in Southeastern China. Male patients were found to have better survival, and FALS patients received an earlier diagnosis. Our findings assist in providing a detailed clinical picture, which is important for ongoing genetic clinical trials.

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“…At the bi‐annual FENS meetings, there are both lectures and exhibitions on the program. Finally, the FENS journal, the European Journal of Neuroscience (ENJ), has published some articles on the development of European neuroscience (Korpi et al, 2020; Lorusso et al, 2018). With this background, the Lundbeck Foundation contacted us regarding the possibility to write a chapter on the history of Danish neuroscience—possibly with a version published in the EJN .…”

Section: Prefacementioning

confidence: 99%

The history of Danish neuroscience

Paulson

Schousboe

Hultborn

2023

Eur J of Neuroscience

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The history of Danish neuroscience starts with an account of impressive contributions made at the 17th century. Thomas Bartholin was the first Danish neuroscientist, and his disciple Nicolaus Steno became internationally one of the most prominent neuroscientists in this period. From the start, Danish neuroscience was linked to clinical disciplines. This continued in the 19th and first half of the 20th centuries with new initiatives linking basic neuroscience to clinical neurology and psychiatry in the same scientific environment. Subsequently, from the middle of the 20th century, basic neuroscience was developing rapidly within the preclinical university sector. Clinical neuroscience continued and was even reinforced during this period with important translational research and a close co‐operation between basic and clinical neuroscience. To distinguish ‘history’ from ‘present time’ is not easy, as many historical events continue in present time. Therefore, we decided to consider ‘History’ as new major scientific developments in Denmark, which were launched before the end of the 20th century. With this aim, scientists mentioned will have been born, with a few exceptions, no later than the early 1960s. However, we often refer to more recent publications in documenting the developments of initiatives launched before the end of the last century. In addition, several scientists have moved to Denmark after the beginning of the present century, and they certainly are contributing to the present status of Danish neuroscience—but, again, this is not the History of Danish neuroscience.

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Finnish neuroscience from past to present

Cited by 3 publications

References 144 publications

SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China

SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China

SOD1 mutation spectrum and natural history of ALS patients in a 15-year Cohort in Southeastern China

The history of Danish neuroscience

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