Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family (Articolo in rivista) (literal)

Anno

• 2010-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1002/mds.23065 (literal)

Alternative label

• Salvatore, E; Di Maio, L; Filla, A; Ferrara, AM; Rinaldi, C; Sacca, F; Peluso, S; Macchia, PE; Pappata, S; De Michele, G (2010)
  Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family
  in Movement disorders; WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 (Stati Uniti d'America)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Salvatore, E; Di Maio, L; Filla, A; Ferrara, AM; Rinaldi, C; Sacca, F; Peluso, S; Macchia, PE; Pappata, S; De Michele, G (literal)

Pagina inizio

• 1491 (literal)

Pagina fine

• 1496 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 25 (literal)

Rivista

• Movement disorders (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Univ Naples Federico 2, Dipartimento Sci Neurol, I-80131 Naples, Italy Univ Naples Federico 2, Dept Endocrinol & Mol & Clin Oncol, I-80131 Naples, Italy CNR, Biostruct & Bioimaging Inst, I-80125 Naples, Italy (literal)

Titolo

• Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family (literal)

Abstract

• Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation presented with congenital hypothyroidism and neonatal respiratory distress. Imaging studies in 2 patients showed mild ventricular enlargement and empty sella at magnetic resonance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography. (literal)

Editore

• WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST (Editore)

Prodotto di

• Institute of biostructure and bioimaging (IBB) (Istituto)
• Caratterizzazione Strutturale, Metabolica e recettoriale Integrata e Quantitativa delle Malattie Degenerative e Neoplastiche del Sistema Nervoso Centrale (ME.P02.001.001) (Modulo)

Autore CNR

• SABINA PAPPATA' (Persona)

Incoming links:

Prodotto

• Institute of biostructure and bioimaging (IBB) (Istituto)
• Caratterizzazione Strutturale, Metabolica e recettoriale Integrata e Quantitativa delle Malattie Degenerative e Neoplastiche del Sistema Nervoso Centrale (ME.P02.001.001) (Modulo)

Autore CNR di

• SABINA PAPPATA' (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Movement disorders (Rivista)

Editore di

• WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST (Editore)