A Novel PSEN1 Mutation in a Patient with Sporadic Early-Onset Alzheimer's Disease and Prominent Cerebellar Ataxia (Articolo in rivista)

Type

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

Label

• A Novel PSEN1 Mutation in a Patient with Sporadic Early-Onset Alzheimer's Disease and Prominent Cerebellar Ataxia (Articolo in rivista) (literal)

Anno

• 2014-01-01T00:00:00+01:00 (literal)

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

• 10.3233/JAD-140081 (literal)

Alternative label

• Testi, Silvia; Peluso, Silvio; Fabrizi, Gian Maria; Antenora, Antonella; Russo, Cinzia Valeria; Pappata, Sabina; Padovani, Alessandro; Ferrarini, Moreno; Filla, Alessandro (2014)
  A Novel PSEN1 Mutation in a Patient with Sporadic Early-Onset Alzheimer's Disease and Prominent Cerebellar Ataxia
  in Journal of Alzheimer's disease
  (literal)

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

• Testi, Silvia; Peluso, Silvio; Fabrizi, Gian Maria; Antenora, Antonella; Russo, Cinzia Valeria; Pappata, Sabina; Padovani, Alessandro; Ferrarini, Moreno; Filla, Alessandro (literal)

Pagina inizio

• 709 (literal)

Pagina fine

• 714 (literal)

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

• 41 (literal)

Rivista

• Journal of Alzheimer's disease (Rivista)

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

• 6 (literal)

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

• 3 (literal)

Note

• ISI Web of Science (WOS) (literal)

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

• University of Verona; University of Naples Federico II; Consiglio Nazionale delle Ricerche (CNR); Univ Hosp Spedali Civili (literal)

Titolo

• A Novel PSEN1 Mutation in a Patient with Sporadic Early-Onset Alzheimer's Disease and Prominent Cerebellar Ataxia (literal)

Abstract

• PSEN1 gene mutations represent the first cause of familiar early-onset Alzheimer's disease (EOAD). More than 190 mutations in PSEN1 have been reported to date. The clinical phenotype is mainly characterized by cognitive decline but movement disorders have been rarely described. We report a novel PSEN1 mutation (p.Thr147Pro) responsible for a sporadic early-onset dementia with prominent cerebellar symptoms, resembling a spinocerebellar syndrome. Neuroradiological and cerebrospinal fluid biomarkers examinations were performed on the patient, showing typical findings of EOAD and suggesting the pathogenicity of the novel mutation. Our study widens the number of unusual phenotypes related to PSEN1 mutations. (literal)

Prodotto di

• Studio di malattie neurodegenerative con tecniche di tomografia emissiva. (ME.P02.001.002) (Modulo)
• Institute of biostructure and bioimaging (IBB) (Istituto)

Autore CNR

• SABINA PAPPATA' (Persona)

Insieme di parole chiave

• Parole chiave di "A Novel PSEN1 Mutation in a Patient with Sporadic Early-Onset Alzheimer's Disease and Prominent Cerebellar Ataxia" (Insieme di parole chiave)

Incoming links:

Prodotto

• Institute of biostructure and bioimaging (IBB) (Istituto)
• Studio di malattie neurodegenerative con tecniche di tomografia emissiva. (ME.P02.001.002) (Modulo)

Autore CNR di

• SABINA PAPPATA' (Persona)

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

• Journal of Alzheimer's disease (Rivista)

Insieme di parole chiave di

• Parole chiave di "A Novel PSEN1 Mutation in a Patient with Sporadic Early-Onset Alzheimer's Disease and Prominent Cerebellar Ataxia" (Insieme di parole chiave)