{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T07:13:59Z","timestamp":1790320439013,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T00:00:00Z","timestamp":1663891200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100013859","name":"Damp Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013859","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["TR 1714\/4\u20101"],"award-info":[{"award-number":["TR 1714\/4\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FOR2488"],"award-info":[{"award-number":["FOR2488"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013859","name":"Damp Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013859","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Coding and noncoding repeat expansions are an important cause of neurodegenerative diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>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\u2010occurrence of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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\u2010read genome sequencing, long\u2010read sequencing, repeat\u2010primed polymerase chain reaction, and Southern blotting.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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 <jats:italic>C9ORF72<\/jats:italic> in four patients with ALS\/FTD and a heterozygous repeat expansion in <jats:italic>DAB1<\/jats:italic> in at least nine patients with SCA, leading to a diagnosis of <jats:italic>DAB1<\/jats:italic>\u2010related ataxia (ATX\u2010DAB1; SCA37). One patient was affected by ALS and SCA and carried both repeat expansions. The repeat in <jats:italic>DAB1<\/jats:italic> had the same configuration but was larger than those previously described ([ATTTT]<jats:sub>\u224875<\/jats:sub>[ATTTC]<jats:sub>\u224840\u2010100<\/jats:sub>[ATTTT]<jats:sub>\u2248415<\/jats:sub>). 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We demonstrate genetic and clinical findings during an 18\u2010year period in a unique family carrying two different pathogenic repeat expansions, providing novel insights into their genotypic and phenotypic spectrums. \u00a9 2022 The Authors. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.29221","type":"journal-article","created":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T06:46:01Z","timestamp":1663915561000},"page":"2427-2439","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis\/Frontotemporal Dementia with <scp><i>DAB1<\/i><\/scp> and <scp><i>C9ORF72<\/i><\/scp> Repeat Expansions: An 18\u2010Year Study"],"prefix":"10.1002","volume":"37","author":[{"given":"Angela","family":"Rosenbohm","sequence":"first","affiliation":[{"name":"Department of Neurology University of Ulm  Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik","family":"Pott","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirja","family":"Thomsen","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haloom","family":"Rafehi","sequence":"additional","affiliation":[{"name":"Division of Population Health and Immunity The Walter and Eliza Hall Institute of Medical Research  Parkville Australia"},{"name":"Department of Medical Biology The University of Melbourne  Parkville Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Kaya","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silke","family":"Szymczak","sequence":"additional","affiliation":[{"name":"Insitute of Medical Biometry and Statistics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander E.","family":"Volk","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Mueller","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Ulm  Ulm 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