Articles liés à Clinical, Radiological and Genetic Investigation of...

Clinical, Radiological and Genetic Investigation of Fahr's Disease - Couverture souple

Marins Ferreira, Cristiane; P Alvarenga, Regina; Antão Paiva, Carmen Lucia

 
9786206409205: Clinical, Radiological and Genetic Investigation of Fahr's Disease
Couverture souple
ISBN 10 : 6206409201 ISBN 13 : 9786206409205
Editeur : Our Knowledge Publishing, 2023

Synopsis

Fahr's disease (FD) or Familial Primary Calcification of the Basal Nuclei is a rare neurodegenerative disease, with an incidence of less than 1 in 1 million inhabitants (SALEEM et al., 2013) worldwide, autosomal dominant, characterised by symmetrical and bilateral calcifications in the basal nuclei (nb) and other areas of the cerebral cortex, thus allowing for diverse clinical presentations, mainly with extrapyramidal and psychiatric symptoms. In recent years, mutations in four genes have been identified as causing the disease (SLC20A2, PDGFRB, PDGFB and XPR1) allowing for a specific genotype-phenotype correlation as shown in Table 1 (TADIC et al., 2015). The author of this research is a neurologist working in the field of neuropediatrics. Through clinical history and examinations, she identified the likelihood of FD in the proband and found ways to develop this work in postgraduate studies.

Les informations fournies dans la section « Synopsis » peuvent faire référence à une autre édition de ce titre.

Éditeur
Our Knowledge Publishing
Date d'édition
2023
Langue
anglais
ISBN 10 
6206409201
ISBN 13 
9786206409205
Reliure
Broché
Nombre de pages
52
Coordonnées du fabricant
non disponible
Personne responsable
non disponible