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Frequency of C9orf7...
Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers
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- Yilmaz, Rüstem (author)
- Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany
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- Grehl, Torsten (author)
- Department of Neurology, Centre for ALS and Other Motor Neuron Disorders, Alfried Krupp Krankenhaus Rüttenscheid, Essen, Germany
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- Eckrich, Lukas (author)
- Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany
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- Marschalkowski, Ines (author)
- Department of Neurology, Centre for ALS and Other Motor Neuron Disorders, Alfried Krupp Krankenhaus Rüttenscheid, Essen, Germany
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- Weishaupt, Kanchi (author)
- Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany
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- Valkadinov, Ivan (author)
- Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany
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- Simic, Melita (author)
- Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany
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- Brenner, David (author)
- Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany; Department of Neurology, University Ulm, Ulm, Germany
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- Andersen, Peter M., 1962- (author)
- Umeå universitet,Neurovetenskaper
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- Wolf, Joachim (author)
- Department of Neurology, Diakonissen Hospital Mannheim, Mannheim, Germany
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- Weishaupt, Jochen H. (author)
- Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany
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(creator_code:org_t)
- 2023-01-17
- 2023
- English.
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In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. - : Taylor & Francis. - 2167-8421 .- 2167-9223. ; 24:5-6, s. 414-419
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Abstract
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- Background: ALS patients with a negative family history (sporadic ALS, SALS) represent more than 90% of all ALS cases. In light of the gene-specific therapies that are currently in development for ALS, knowledge about the genetic landscape of SALS in Germany is urgently needed.Objectives: We aimed to determine the frequency of C9orf72 hexanucleotide repeat expansion (HRE) and SOD1 mutations among patients in Germany with a diagnosis of sporadic or idiopathic ALS.Methods: We genotyped SALS patients from three German ALS centers. Sanger sequencing, fragment length analysis, and repeat-primed PCR technologies were used to detect mutations in SOD1 and C9orf72 HRE. Pathological C9orf72 HRE results were confirmed in an independent laboratory.Results: In 302 patients with SALS, 27 (8.9%) patients with a C9orf72 HRE mutation were detected. Moreover, we identified two patients with a pathogenic SOD1 mutation, one patient with a heterozygous p.D91A mutation in SOD1, and three additional patients with rare SOD1 variants not predicted to change the amino acid sequence.Conclusions: According to our data, the proportion of SALS patients with SOD1 mutations is in the expected range, whereas that with C9orf72 HRE is higher, suggesting a reduced penetrance. A considerable number of SALS patients can be amenable to gene-specific therapies.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Amyotrophic lateral sclerosis
- motor neuron disease
- neurodegeneration
- neurogenetics
- sporadic ALS
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Yilmaz, Rüstem
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Grehl, Torsten
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Eckrich, Lukas
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Marschalkowski, ...
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Weishaupt, Kanch ...
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Valkadinov, Ivan
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Simic, Melita
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Brenner, David
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Andersen, Peter ...
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Wolf, Joachim
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Weishaupt, Joche ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Amyotrophic Late ...
- By the university
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Umeå University