{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:03:13Z","timestamp":1792782193005,"version":"4.5.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T00:00:00Z","timestamp":1418342400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Finska L\u00c3\u00a4kares\u00c3\u00a4llskapet","award":["G108"],"award-info":[{"award-number":["G108"]}]},{"DOI":"10.13039\/501100004012","name":"Jane and Aatos Erkko Foundation","doi-asserted-by":"crossref","award":["G125"],"award-info":[{"award-number":["G125"]}],"id":[{"id":"10.13039\/501100004012","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2015,1]]},"abstract":"\n Objective<\/jats:title>\n A study was undertaken to identify the responsible gene defect underlying late onset spinal motor neuronopathy (LOSMoN\/SMAJ; Online Mendelian Inheritance in Man #615048), an autosomal dominant disease mapped to chromosome 22q11.2.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n The previous genetic linkage approach by microsatellite haplotyping was continued in new families. A whole genome sequencing was performed to find all possibly pathogenic mutations in the linked area. The detected variations were verified by Sanger sequencing.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Six new SMAJ families were identified based on the unique founder haplotype. A critical recombination in 1 family restricted the linked area to 727kb between markers SHGC\u2010106816 and D22S345. In whole genome sequencing a previously unknown mutation c.197G>T p.G66V in\n CHCHD10<\/jats:italic>\n was identified. The mutation was shown to segregate with the disease in 55 patients from 17 families.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation<\/jats:title>\n \n Mutation c.197G>T p.G66V in\n CHCHD10<\/jats:italic>\n is the cause of the lower motor neuron syndrome LOSMoN\/SMAJ. During the preparation of this article other mutations were reported to cause frontotemporal dementia\u2013amyotrophic lateral sclerosis syndrome, indicating that the\n CHCHD10<\/jats:italic>\n gene is largely important for the motor and cognitive neuronal systems. ANN NEUROL 2015;77:163\u2013172\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ana.24319","type":"journal-article","created":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T13:07:43Z","timestamp":1417007263000},"page":"163-172","source":"Crossref","is-referenced-by-count":113,"title":["Late onset spinal motor neuronopathy is caused by mutation in\n \n CHCHD<\/i>\n <\/scp>\n 10<\/i>"],"prefix":"10.1002","volume":"77","author":[{"given":"Sini","family":"Penttil\u00e4","sequence":"first","affiliation":[{"name":"Neuromuscular Research Center Tampere University and University Hospital Tampere"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manu","family":"Jokela","sequence":"additional","affiliation":[{"name":"Division of Clinical Neurosciences Turku University Hospital and University of Turku Turku"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Bouquin","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tampere University and University Hospital Tampere"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maija","family":"Saukkonen","sequence":"additional","affiliation":[{"name":"Department of Neurology Central Hospital of Northern Karelia Joensuu"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jari","family":"Toivanen","sequence":"additional","affiliation":[{"name":"Department of Neurology Central Hospital of Northern Karelia Joensuu"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tampere University and University Hospital Tampere"},{"name":"Folkh\u00e4lsan Institute of Genetics and Department of Medical Genetics Haartman Institute University of Helsinki Helsinki"},{"name":"Department of Neurology Vasa Central Hospital Vasa 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