{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T06:06:05Z","timestamp":1768975565926,"version":"3.49.0"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T00:00:00Z","timestamp":1644451200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["16ek0109086h0002"],"award-info":[{"award-number":["16ek0109086h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["20ek0109472s0201"],"award-info":[{"award-number":["20ek0109472s0201"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:p>Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness due to degeneration of lower motor neurons in the anterior horn of the spinal cord. We analyzed autopsy findings of a male patient with SMA type 2 who survived until 61\u2009years of age. Genetic analysis revealed a homozygous deletion of the survival motor neuron (SMN) gene 1 (<jats:italic>SMN1<\/jats:italic>) exon 7, confirming the diagnosis of SMA. Results of further analyses indicated that the patient had two copies of the genuine SMN gene 2 (<jats:italic>SMN2<\/jats:italic>) and one copy of a hybrid gene containing <jats:italic>SMN2<\/jats:italic> exon 7 and <jats:italic>SMN1<\/jats:italic> exon 8. Pathological examination revealed moderate neuronal loss of the anterior horn and appearance of heterotopic neurons in the lateral funiculus, whereas a few achromatic neurons were notably localized in the anterior horn of the lumbar segment. Microdysgenesis as a consequence of migration disturbance was found in the white matter of the frontal lobe, postulating the possibility of the maldevelopment of the nervous system.<\/jats:p>","DOI":"10.1111\/neup.12784","type":"journal-article","created":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T00:48:21Z","timestamp":1644540501000},"page":"141-146","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Spinal muscular atrophy type 2 patient who survived 61\u00a0<scp>years: an autopsy<\/scp> case report"],"prefix":"10.1111","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6860-6338","authenticated-orcid":false,"given":"Misaki","family":"Yamadera","sequence":"first","affiliation":[{"name":"Department of Neurology National Hospital Organization Osaka Toneyama Medical Center  Toyonaka Japan"},{"name":"Brain Bank for Neurodevelopmental, Neurological and Psychiatric Disorders, Molecular Research 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