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A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification: letter to the editor

Sir,Primary familial brain calcification (PFBC) is an adult-onset hereditary disease marked by calcium deposits in multiple parts of the brain and progressive symptoms that can include cerebellar and extrapyramidal syndromes, dysarthria and neuropsychiatric alterations (Fahr’s syndrome) (Fahr, 1931;...

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Hauptverfasser: Forouhideh, Yalda (VerfasserIn) , Müller, Kathrin (VerfasserIn) , Ruf, Wolfgang (VerfasserIn) , Assi, Muhannad (VerfasserIn) , Şeker, Tuncay (VerfasserIn) , Tunca, Ceren (VerfasserIn) , Knehr, Antje (VerfasserIn) , Strom, Tim M (VerfasserIn) , Gorges, Martin (VerfasserIn) , Schradt, Falk (VerfasserIn) , Meitinger, Thomas (VerfasserIn) , Ludolph, Albert C. (VerfasserIn) , Pinkhardt, Elmar H (VerfasserIn) , Başak, A Nazlı (VerfasserIn) , Kassubek, Jan Rainer (VerfasserIn) , Uttner, Ingo (VerfasserIn) , Weishaupt, Jochen H. (VerfasserIn)
Dokumenttyp: Article (Journal) Editorial
Sprache:Englisch
Veröffentlicht: 12 January 2019
In: Brain
Year: 2019, Jahrgang: 142, Heft: 2, Pages: e4
ISSN:1460-2156
DOI:10.1093/brain/awy343
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/brain/awy343
Volltext
Verfasserangaben:Yalda Forouhideh, Kathrin Müller, Wolfgang Ruf, Muhannad Assi, Tuncay Şeker, Ceren Tunca, Antje Knehr, Tim M. Strom, Martin Gorges, Falk Schradt, Thomas Meitinger, Albert C. Ludolph, Elmar H. Pinkhardt, A. Nazlı Başak, Jan Kassubek, Ingo Uttner and Jochen H. Weishaupt
Beschreibung
Zusammenfassung:Sir,Primary familial brain calcification (PFBC) is an adult-onset hereditary disease marked by calcium deposits in multiple parts of the brain and progressive symptoms that can include cerebellar and extrapyramidal syndromes, dysarthria and neuropsychiatric alterations (Fahr’s syndrome) (Fahr, 1931; Nicolas et al., 2013a, b). Heterozygous mutations in PDGFB, PDGFRB, XPR1 and SCL20A2 can cause autosomal-dominantly inherited PFBC (Wang et al., 2012; Keller et al., 2013; Nicolas et al., 2013a, b; Legati et al., 2015), while autosomal-recessively inherited cases remained genetically unexplained. Most recently, however, Yao et al. (2018) have suggested that biallelic mutations in the gene KIAA1161/MYORG are a recessive cause for PFBC, based on the analysis of six Chinese families. However, an independent confirmation is currently missing and no MYORG-linked PFBC case has been reported from outside China. Here, we show complementary data indicating that MYORG is a novel PFBC disease gene and provide an in-depth phenotype characterization.
Beschreibung:Gesehen am 17.06.2021
Beschreibung:Online Resource
ISSN:1460-2156
DOI:10.1093/brain/awy343

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