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The size of the basis pontis, cerebellar hemispheres, middle cerebellar peduncles, and medulla oblongata were decreased in 4 members carrying the SCA1 gene, compared with 6 unaffected subjects. Diffuse signal changes in the pons and cerebellum were observed only in the carrier with the longest disease duration and greatest disability. The <jats:italic>N<\/jats:italic>\u2010acetylaspartate\/creatine ratio and the choline\/creatine ratio in the basis points were markedly decreased in 2 symptomatic SCA1 carriers and moderately decreased in 2 asymptomatic SCA1 carriers, compared with the unaffected family members and a control group of 10 healthy volunteers. Minor decreases in the <jats:italic>N<\/jats:italic>\u2010acetylaspartate\/creatine ratio and the normal choline\/creatine ratio, demonstrated by MR spectroscopy in the pons, is likely to reflect a loss of neuronal viability and might represent a biochemical marker of SCA1 more sensitive than brainstem and cerebellum atrophy and signal changes shown by MR imaging.<\/jats:p>","DOI":"10.1002\/ana.410430215","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:12:24Z","timestamp":1104592344000},"page":"244-252","source":"Crossref","is-referenced-by-count":67,"title":["Proton magnetic resonance spectroscopy in an italian family with spinocerebellar ataxia type 1"],"prefix":"10.1002","volume":"43","author":[{"given":"Mario","family":"Mascalchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Tosetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosaria","family":"Plasmati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Tessa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Salvi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Frontali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Valzania","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Bartolozzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo Alberto","family":"Tassinari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1007\/BF00342023","article-title":"Primary progressive cerebellar ataxia","volume":"31","author":"Bradac GB","year":"1993","journal-title":"Neuroradiology"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.174.3.2305051"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.163.1.8010211"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.1.51"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.2.318"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-199505000-00025"},{"key":"e_1_2_1_8_2","volume-title":"Inherited ataxias. 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