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| [PMID]: | 28097511 |
| [Au] Autor: | Kostic VS; Petrovic IN |
| [Ad] Endereço: | Clinic of Neurology, Clinical Centre of Serbia, Faculty of Medicine, University of Belgrade, Dr Subotica 6, Belgrade, 11000, Serbia. vladimir.s.kostic@gmail.com. |
| [Ti] Título: | Brain Calcification and Movement Disorders. |
| [So] Source: | Curr Neurol Neurosci Rep;17(1):2, 2017 Jan. | | [Is] ISSN: | 1534-6293 |
| [Cp] País de publicação: | United States |
| [La] Idioma: | eng |
| [Ab] Resumo: | Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia. PFBC, usually inherited in an autosomal dominant fashion, is both an intrafamilial and an interfamilial heterogeneous disorder, clinically characterized by an insidious and progressive development of movement disorders, cognitive decline, and psychiatric symptoms, but also cerebellar ataxia, pyramidal signs, and sometimes isolated seizures and headaches/migraines. Heterozygous mutations in four genes (SLC20A2, PDGFRB, PDGFB, XPR1) have recently proved to be the causes of the autosomal dominant forms of PFBC, also suggesting disrupted phosphate homeostasis as "an underlying and converging" pathophysiological mechanism. However, to date, it is not possible to anticipate with acceptable certainty any of known genetic causes of PFBC on the basis of the type, severity, pattern of distribution, or combination of movement disorders (mainly parkinsonism, with or without tremor, but also dystonia, chorea, paroxysmal kinesigenic dyskinesia, orofacial dyskinesia, and gait and speech disorders). |
| [Mh] Termos MeSH primário: |
Encefalopatias/fisiopatologia
Calcinose/genética
Transtornos dos Movimentos/fisiopatologia
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| [Mh] Termos MeSH secundário: |
Animais
Seres Humanos
Transtornos dos Movimentos/etiologia
Mutação
Proteínas Proto-Oncogênicas c-sis/genética
Receptores Acoplados a Proteínas-G/genética
Receptores Virais/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/genética
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| [Pt] Tipo de publicação: | JOURNAL ARTICLE; REVIEW |
[Nm] Nome de substância:
| 0 (Proto-Oncogene Proteins c-sis); 0 (Receptors, G-Protein-Coupled); 0 (Receptors, Virus); 0 (SLC20A2 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type III); 0 (xenotropic and polytropic retrovirus receptor); 1B56C968OA (becaplermin) |
| [Em] Mês de entrada: | 1710 |
| [Cu] Atualização por classe: | 171107 |
[Lr] Data última revisão:
| 171107 |
| [Sb] Subgrupo de revista: | IM |
| [Da] Data de entrada para processamento: | 170119 |
| [St] Status: | MEDLINE |
| [do] DOI: | 10.1007/s11910-017-0710-9 |
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