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MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.
Bauer, Max; Rahat, Dolev; Zisman, Elad; Tabach, Yuval; Lossos, Alexander; Meiner, Vardiella; Arkadir, David.
Afiliación
  • Bauer M; Department of Neurology, Hadassah Medical Center and the Hebrew University, POB 12000, 91120, Jerusalem, Israel.
  • Rahat D; Institute for Medical Research, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Zisman E; Department of Genetics and Metabolic Diseases, Hadassah Medical Center and the Hebrew University, Jerusalem, Israel.
  • Tabach Y; Institute for Medical Research, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Lossos A; Institute for Medical Research, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Meiner V; Department of Neurology, Hadassah Medical Center and the Hebrew University, POB 12000, 91120, Jerusalem, Israel.
  • Arkadir D; Department of Genetics and Metabolic Diseases, Hadassah Medical Center and the Hebrew University, Jerusalem, Israel.
Curr Neurol Neurosci Rep ; 19(10): 70, 2019 08 23.
Article en En | MEDLINE | ID: mdl-31440850
PURPOSE OF REVIEW: Until recently, the gene associated with the recessive form of familial brain calcification (PFBC, Fahr disease) was unknown. MYORG, a gene that causes recessive PFBC was only recently discovered and is currently the only gene associated with a recessive form of this disease. Here, we review the radiological and clinical findings in adult MYORG mutation homozygous and heterozygous individuals. RECENT FINDINGS: MYORG was shown to be the cause of a large fraction of recessive cases of PFBC in patients of different ethnic populations. Pathogenic mutations include inframe insertions and deletions in addition to nonsense and missense mutations that are distributed throughout the entire MYORG coding region. Homozygotes have extensive brain calcification in all known cases, whereas in some carriers of heterozygous mutation, punctuated calcification of the globus pallidus is demonstrated. The clinical spectrum in homozygotes ranges from the lack of neurological symptoms to severe progressive neurological syndrome with bulbar and cerebellar signs, parkinsonism and other movement disorders, and cognitive impairments. Heterozygotes are clinically asymptomatic. MYORG is a transmembrane protein localized to the endoplasmic reticulum and is mainly expressed in astrocytes. While the biochemical pathways of the protein are still unknown, information from its evolution profile across hundreds of species (phylogenetic profiling) suggests a role for MYORG in regulating ion homeostasis via its glycosidase domain. MYORG mutations are a major cause for recessive PFBC in different world populations. Future studies are required in order to reveal the cellular role of the MYORG protein.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Encefalopatías Límite: Adult / Humans / Male Idioma: En Revista: Curr Neurol Neurosci Rep Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Encefalopatías Límite: Adult / Humans / Male Idioma: En Revista: Curr Neurol Neurosci Rep Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos