{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T06:54:12Z","timestamp":1769064852969,"version":"3.49.0"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3172,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1996,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited progressive neurological disorder characterized by neuronal degeneration and reactive gliosis in the cerebellum, brainstem, spinocerebellar tracts, and dorsal columns. Multiple system atrophy is a sporadic progressive neurological disorder with degeneration and gliosis in the basal ganglia, cerebellum, brainstem, and spinal autonomic nuclei, and with argyrophilic glial cytoplasmic inclusions. We describe 4 members of a family with the SCAl mutation and a dominantly inherited progressive ataxia in which autopsy examination of 1 member showed neuropathological changes typical of multiple system atrophy, including glial cytoplasmic inclusions. In this patient, magnetic resonance imaging revealed marked brainstem and cerebellar volume loss and mild supratentorial generalized volume loss. Positron emission tomography with [<jats:sup>18<\/jats:sup>F]fluorodeoxyglucose revealed widespread hypometabolism in a pattern found in sporadic multiple system atrophy and not in dominantly inherited olivopontocerebellar atrophy. Positron emission tomography with [<jats:sup>ll<\/jats:sup>C]flumazenil revealed normal benzodiazepine receptor distribution volumes, similar to those seen in sporadic multiple system atrophy. Two other family members still living had similar changes in the imaging studies. The findings in this family suggest that the SCAl gene mutation can result in a disorder similar to multiple system atrophy, both clinically and neuropathologically.<\/jats:p>","DOI":"10.1002\/ana.410390214","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:32:12Z","timestamp":1104597132000},"page":"241-255","source":"Crossref","is-referenced-by-count":113,"title":["Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions"],"prefix":"10.1002","volume":"39","author":[{"given":"Sid","family":"Gilman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anders A. F.","family":"Sima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larry","family":"Junck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen J.","family":"Kluin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert A.","family":"Koeppe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary E.","family":"Lohman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roderick","family":"Little","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","volume-title":"Disorders of the cerebellum","author":"Gilman S","year":"1981"},{"key":"e_1_2_1_3_2","volume-title":"The hereditary ataxias and related disorders","author":"Harding AE","year":"1984"},{"key":"e_1_2_1_4_2","first-page":"415","volume-title":"Handbook of clinical neurology","author":"Eadie MJ","year":"1975"},{"key":"e_1_2_1_5_2","first-page":"433","volume-title":"Handbook of clinical neurology","author":"Eadie MJ","year":"1975"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-221"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-295"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380113"},{"key":"e_1_2_1_9_2","first-page":"A361","article-title":"Autosomal dominant spinocerebellar araxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in Utah kindred","volume":"44","author":"Gardner K","year":"1994","journal-title":"Neuroloby"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-280"},{"key":"e_1_2_1_11_2","doi-asserted-by":"crossref","unstructured":"QuinnNMultiple system atrophy\u2010the narure of the beast. J Neurol Neurosurg Psychiatry1989; (special suppl):78\u201389","DOI":"10.1136\/jnnp.52.Suppl.78"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.56.12.1239"},{"key":"e_1_2_1_13_2","first-page":"564","volume-title":"Autonomic failure: a textbook of clinical disorders of the autonomic nervous system","author":"Daniel SE","year":"1972"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(89)90219-0"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199009000-00007"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293383"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00867586"},{"key":"e_1_2_1_18_2","first-page":"274","article-title":"Les inclusions oligodendrogliales, un marqueur des atrophies multisyst\u00e9matis\u00e9es","volume":"4","author":"Costa C","year":"1992","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.10.2031"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294235"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(92)90286-T"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.2.129"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/117.2.235"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293314"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00227820"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197005000-00003"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(72)90137-2"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.7.703"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410230303"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410230604"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240310"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1038\/jcbfm.1991.130"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1038\/jcbfm.1991.131"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300506"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1038\/jcbfm.1984.5"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410360208"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380209"},{"key":"e_1_2_1_38_2","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1177\/29.4.6166661","article-title":"Use of avidin\u2010biotin\u2010peroxidase complex (ABC:) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures","volume":"29","author":"Hsu S\u2010M","year":"1981","journal-title":"J Histochem Cytochem"},{"key":"e_1_2_1_39_2","volume-title":"BMDP statistical software","author":"Dixon WJ","year":"1988"},{"key":"e_1_2_1_40_2","first-page":"538","article-title":"Primary limbic lobe gliosis; familial and sporadic cases","volume":"4","author":"Sima AAF","year":"1994","journal-title":"Brain Pathol"},{"key":"e_1_2_1_41_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-3940(92)90145-W"},{"key":"e_1_2_1_42_2","first-page":"183","article-title":"Hereditary araxia: a pathologic study of five cases of common ancestry","volume":"1","author":"Schut JW","year":"1951","journal-title":"J Neuropathol Clin Neurol"},{"key":"e_1_2_1_43_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.9.1040"},{"key":"e_1_2_1_44_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.30.1.12"},{"key":"e_1_2_1_45_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1990.00530020094021"},{"key":"e_1_2_1_46_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1992.tb04041.x"},{"key":"e_1_2_1_47_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.1.24"},{"key":"e_1_2_1_48_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1960.03840110025004"},{"key":"e_1_2_1_49_2","first-page":"49","article-title":"Shy\u2010Drager syndrome: the transitional variant","volume":"6","author":"Sima AAF","year":"1987","journal-title":"Clin Neuropathol"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410390214","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410390214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T20:26:52Z","timestamp":1698352012000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410390214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,2]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1996,2]]}},"alternative-id":["10.1002\/ana.410390214"],"URL":"https:\/\/doi.org\/10.1002\/ana.410390214","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,2]]}}}