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http://purl.uniprot.org/citations/28431631http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/28431631http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations.

Materials and methods

Neuroimaging findings in five JBTS patients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on T1-magnetization prepared rapid gradient echo (MPRAGE), T2-weighted images, and color-coded fractional anisotropy (FA) maps; the findings were compared to those in four JBTS patients with mutations in other genes (including three with AHI1 and one with TMEM67 mutations).

Results

In C5orf42-mutant patients, the infratentorial magnetic resonance (MR) images showed normal or minimally thickened and minimally elongated superior cerebellar peduncles (SCP), normal or minimally deepened interpeduncular fossa (IF), and mild vermian hypoplasia (VH). However, in other patients, all had severe abnormalities in the SCP and IF, and moderate to marked VH. Supratentorial abnormalities were found in one individual in other JBTS. In JBTS with all mutations, color-coded FA maps showed the absence of decussation of the SCP (DSCP).

Conclusion

The morphological neuroimaging findings in C5orf42-mutant JBTS were distinctly mild and made diagnosis difficult. However, the absence of DSCP on color-coded FA maps may facilitate the diagnosis of JBTS."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.org/dc/terms/identifier"doi:10.1016/j.jns.2017.02.065"xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Goto T."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Matsumoto N."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Suzuki T."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Osaka H."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Niwa T."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Saitsu H."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Ohba C."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Kurosawa K."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Aida N."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Naruto T."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/author"Enokizono M."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/name"J Neurol Sci"xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/pages"7-12"xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/title"Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia."xsd:string
http://purl.uniprot.org/citations/28431631http://purl.uniprot.org/core/volume"376"xsd:string
http://purl.uniprot.org/citations/28431631http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/28431631
http://purl.uniprot.org/citations/28431631http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/28431631
http://purl.uniprot.org/uniprot/#_A0A494BZW6-mappedCitation-28431631http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28431631
http://purl.uniprot.org/uniprot/#_Q9H799-mappedCitation-28431631http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28431631
http://purl.uniprot.org/uniprot/Q9H799http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/28431631
http://purl.uniprot.org/uniprot/A0A494BZW6http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/28431631
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