{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T05:10:14Z","timestamp":1694841014259},"reference-count":7,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2011,8,9]],"date-time":"2011-08-09T00:00:00Z","timestamp":1312848000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebellar and brainstem hypoplasia may occur in different conditions, including those disorders designated as pontocerebellar hypoplasia (PCH). In particular, when PCH is combined with severe supratentorial white matter involvement and cerebral atrophy, mutations in the mitochondrial arginyl\u2010tRNA synthethase (RARS2) gene causing PCH6 are possible. We describe a patient with a lethal mitochondrial encephalomyopathy due to a mtDNA deletion and no alterations in RARS2, whose magnetic resonance (MR) findings mimicked PCH6. A thorough diagnostic work\u2010up for mitochondrial disorders should be carried out when facing with a PCH\u2010like and severe white matter and basal ganglia involvement on brain MR imaging in children, even if clinical and laboratory mitochondrial \u201cstigmata\u201d are scant or nonspecific.<\/jats:p>","DOI":"10.1007\/s10545-011-9376-7","type":"journal-article","created":{"date-parts":[[2011,8,8]],"date-time":"2011-08-08T11:31:55Z","timestamp":1312803115000},"page":"1225-1227","source":"Crossref","is-referenced-by-count":3,"title":["Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion"],"prefix":"10.1002","volume":"34","author":[{"given":"Roberta","family":"Biancheri","sequence":"first","affiliation":[{"name":"Child Neurology and Psychiatry Unit G. Gaslini Pediatric Institute Genova Italy"},{"name":"Child Neurology and Psychiatry Unit IRCCS G. Gaslini Largo G. Gaslini 5 Genova 16147 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[{"name":"Muscular and Neurodegenerative Disease Unit G. Gaslini Pediatric Institute Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Cassandrini","sequence":"additional","affiliation":[{"name":"IRCCS Fondazione Stella Maris Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Unit of Neuromuscular Disorders IRCCS Bambino Ges\u00f9 Hospital Roma Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo M.","family":"Santorelli","sequence":"additional","affiliation":[{"name":"IRCCS Fondazione Stella Maris Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Rossi","sequence":"additional","affiliation":[{"name":"Pediatric Neuroradiology G. Gaslini Pediatric Institute Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,8,9]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f88173"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/521227"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq287"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2007.07.010"},{"key":"e_1_2_3_6_1","first-page":"1675","article-title":"Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects","volume":"26","author":"Scaglia F","year":"2005","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2006.11.012"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33531"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9376-7","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-011-9376-7","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9376-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T20:10:49Z","timestamp":1694808649000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9376-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,9]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1007\/s10545-011-9376-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-011-9376-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,8,9]]}}}