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| Verfasst von: | Rosenbohm, Angela [VerfasserIn]  |
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| | Pott, Hendrik [VerfasserIn] |
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| | Thomsen, Mirja [VerfasserIn] |
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| | Rafehi, Haloom [VerfasserIn] |
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| | Kaya, Sabine [VerfasserIn] |
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| | Szymczak, Silke [VerfasserIn] |
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| | Volk, Alexander E. [VerfasserIn] |
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| | Mueller, Kathrin [VerfasserIn] |
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| | Silveira, Isabel [VerfasserIn] |
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| | Weishaupt, Jochen H. [VerfasserIn] |
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| | Tönnies, Holger [VerfasserIn] |
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| | Seibler, Philip [VerfasserIn] |
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| | Zschiedrich, Katja [VerfasserIn] |
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| | Schaake, Susen [VerfasserIn] |
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| | Westenberger, Ana [VerfasserIn] |
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| | Zühlke, Christine [VerfasserIn] |
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| | Depienne, Christel [VerfasserIn] |
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| | Trinh, Joanne [VerfasserIn] |
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| | Ludolph, Albert C. [VerfasserIn] |
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| | Klein, Christine [VerfasserIn] |
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| | Bahlo, Melanie [VerfasserIn] |
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| | Lohmann, Katja [VerfasserIn] |
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| Titel: | Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with and Repeat Expansions |
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| Titelzusatz: | An 18-Year Study |
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| Verf.angabe: | Angela Rosenbohm, Hendrik Pott, Mirja Thomsen, Haloom Rafehi, Sabine Kaya, Silke Szymczak, Alexander E. Volk, Kathrin Mueller, Isabel Silveira, Jochen H. Weishaupt, Holger Tönnies, Philip Seibler, Katja Zschiedrich, Susen Schaake, Ana Westenberger, Christine Zühlke, Christel Depienne, Joanne Trinh, Albert C. Ludolph, Christine Klein, Melanie Bahlo, Katja Lohmann |
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| E-Jahr: | 2022 |
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| Jahr: | December 2022 |
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| Umfang: | 13 S. |
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| Fussnoten: | Erstmals veröffentlicht: 23. September 2022 ; Gesehen am 22.07.2024 |
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| Titel Quelle: | Enthalten in: Movement disorders |
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| Ort Quelle: | New York, NY : Wiley, 1986 |
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| Jahr Quelle: | 2022 |
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| Band/Heft Quelle: | 37(2022), 12 vom: Dez., Seite 2427-2439 |
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| ISSN Quelle: | 1531-8257 |
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| Abstract: | Background Coding and noncoding repeat expansions are an important cause of neurodegenerative diseases. Objective This study determined the clinical and genetic features of a large German family that has been followed for almost 2 decades with an autosomal dominantly inherited spinocerebellar ataxia (SCA) and independent co-occurrence of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods We carried out clinical examinations and telephone interviews, reviewed medical records, and performed magnetic resonance imaging and positron emission tomography scans of all available family members. Comprehensive genetic investigations included linkage analysis, short-read genome sequencing, long-read sequencing, repeat-primed polymerase chain reaction, and Southern blotting. Results The family comprises 118 members across seven generations, 30 of whom were definitely and five possibly affected. In this family, two different pathogenic mutations were found, a heterozygous repeat expansion in C9ORF72 in four patients with ALS/FTD and a heterozygous repeat expansion in DAB1 in at least nine patients with SCA, leading to a diagnosis of DAB1-related ataxia (ATX-DAB1; SCA37). One patient was affected by ALS and SCA and carried both repeat expansions. The repeat in DAB1 had the same configuration but was larger than those previously described ([ATTTT]≈75[ATTTC]≈40-100[ATTTT]≈415). Clinical features in patients with SCA included spinocerebellar symptoms, sometimes accompanied by additional ophthalmoplegia, vertical nystagmus, tremor, sensory deficits, and dystonia. After several decades, some of these patients suffered from cognitive decline and one from additional nonprogressive lower motor neuron affection. Conclusion We demonstrate genetic and clinical findings during an 18-year period in a unique family carrying two different pathogenic repeat expansions, providing novel insights into their genotypic and phenotypic spectrums. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. |
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| DOI: | doi:10.1002/mds.29221 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.1002/mds.29221 |
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| | kostenfrei: Volltext: http://onlinelibrary.wiley.com/doi/abs/10.1002/mds.29221 |
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| | DOI: https://doi.org/10.1002/mds.29221 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | ALS |
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| | DAB1 |
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| | frontotemporal dementia |
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| | genome sequencing |
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| | linkage studies in genetics |
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| | nanopore sequencing |
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| | repeat expansion |
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| | SCA37 |
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| | spinocerebellar ataxia |
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| K10plus-PPN: | 1896018335 |
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| Verknüpfungen: | → Zeitschrift |
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Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with and Repeat Expansions / Rosenbohm, Angela [VerfasserIn]; December 2022 (Online-Ressource)
