{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T16:55:47Z","timestamp":1788886547053,"version":"build-2803163510"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T00:00:00Z","timestamp":1728604800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:p>Hereditary spastic paraplegia (HSP) with thin corpus callosum can be due to a variety of genetic causes, the most common of which are biallelic variants in <jats:italic>SPG11<\/jats:italic> (HSP11). Only six cases of neuropathologic examination of HSP11 have been reported. Here we present neuropathological findings in another case of HSP11 with novel mutation (homozygous c.6439_6442del) and clinical features of three additional cases of HSP11. These four cases of HSP11 had similar disease courses with prominent lower extremity weakness and spasticity but varied cognitive symptoms and brain magnetic resonance imaging (MRI) findings. Neuropathological examination of one case included <jats:italic>ex vivo<\/jats:italic> MRI of the cerebrum, histologic and immunohistochemical evaluation, and Western blot for SPG11. The case was notable for a small cerebrum with decreased volume of cortex, white matter, and deep gray nuclei. The corpus callosum was thin, and the substantia nigra showed marked pallor. Microscopically, the cortex had normal lamination and mild loss of neurons with mild gliosis, the corpus callosum was thin with limited gliosis, and the substantia nigra had marked decrease in neurons and pigment, with minimal gliosis. In contrast, the basal ganglia, thalamus, and spinal cord (anterior horns, corticospinal, and spinocerebellar tracts) had prominent neuron loss and gliosis. Myelin\u2010laden macrophages were found in multiple sites but were most common in the corpus callosum. No hyperphosphorylated tau or TDP\u201043 aggregates, Lewy bodies, or amyloid \u03b2 plaques were found. Compared to control, SPG11 was absent in HSP11 brain and markers of autophagy were elevated by Western blot. Comparison with prior reports of HSP with thin corpus callosum and HSP11 demonstrates a disease with a broad range of structural changes of the brain, including features of abnormal development and degeneration.<\/jats:p>","DOI":"10.1111\/neup.13007","type":"journal-article","created":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T08:55:38Z","timestamp":1728636938000},"page":"123-134","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Hereditary spastic paraplegia with thin corpus callosum and <scp><i>SPG11<\/i><\/scp> mutation: A neuropathological evaluation"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7143-1065","authenticated-orcid":false,"given":"Kathryn P.","family":"Scherpelz","sequence":"first","affiliation":[{"name":"Division of Neuropathology, Department of Laboratory Medicine and Pathology University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca A.","family":"Yoda","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Department of Laboratory Medicine and Pathology University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suman","family":"Jayadev","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Y.","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Washington  Seattle Washington USA"},{"name":"Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua C.","family":"Hincks","sequence":"additional","affiliation":[{"name":"Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole F.","family":"Liachko","sequence":"additional","affiliation":[{"name":"Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System  Seattle Washington USA"},{"name":"Division of Gerontology and Geriatric Medicine, Department of Medicine University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M.","family":"Bragg","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-8022-2459","authenticated-orcid":false,"given":"Alexa","family":"Cochoit","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine L.","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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