{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T07:25:40Z","timestamp":1787124340207,"version":"build-2736575974"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T00:00:00Z","timestamp":1787097600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Amyotrophic lateral sclerosis (ALS), the most common type of motor neuron disease, primarily manifests as progressive weakness, atrophy, fasciculations, bulbar palsy, and pyramidal tract symptoms. Accumulating evidence indicates that the pathological spectrum of ALS extends beyond the pyramidal and neuromuscular motor systems, involving additional brain regions, manifesting as ALS-plus syndrome. We present a case of an elderly woman with bulbar-onset ALS accompanied by cerebellar manifestations and an intermediate-length\n                    <jats:italic>CACNA1A<\/jats:italic>\n                    allele. Based on the Gold Coast criteria, ALS diagnosis was made. Notably, the patient exhibited cognitive impairment and a positive Romberg sign, suggesting a broader phenotypic spectrum. Genetic analysis showed a CAG repeat genotype of 10\/20 in the\n                    <jats:italic>CACNA1A<\/jats:italic>\n                    gene. The patient\u2019s son carried a 14\/20 genotype and displayed isolated cerebellar ataxia without motor neuron features. We reviewed the literature on spinocerebellar ataxia (SCA) co-occurring with motor neuron disease and discussed the uncertain significance of the intermediate-length\n                    <jats:italic>CACNA1A<\/jats:italic>\n                    allele in this context, weighing coincidental co-occurrence against a potential causal link. To our knowledge, this case is the first reported instance of an intermediate-length\n                    <jats:italic>CACNA1A<\/jats:italic>\n                    allele co-occurring with ALS in Chinese population, although the association between the allele and ALS remains unclear.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1860828","type":"journal-article","created":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T06:52:52Z","timestamp":1787122372000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Amyotrophic lateral sclerosis -plus patient with an intermediate-length CACNA1A allele: a Case Report"],"prefix":"10.3389","volume":"17","author":[{"given":"Xinyao","family":"Gao","sequence":"first","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Jianyang People\u2019s Hospital","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sihui","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanzheng","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianqian","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huifang","family":"Shang","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueping","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,8,19]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1111\/j.1468-1331.2011.03501.x","article-title":"EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force","volume":"19","author":"Andersen","year":"2012","journal-title":"Eur. 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