Esposito, Marcello (2011) THE GENETIC BASIS OF PRIMARY ADULT-ONSET DYSTONIA. [Tesi di dottorato] (Unpublished)

[thumbnail of Esposito_Marcello_24.pdf]
Preview
PDF
Esposito_Marcello_24.pdf

Download (162kB) | Preview
Item Type: Tesi di dottorato
Resource language: English
Title: THE GENETIC BASIS OF PRIMARY ADULT-ONSET DYSTONIA
Creators:
Creators
Email
Esposito, Marcello
marcello.esposito@unina.it
Date: 29 November 2011
Number of Pages: 30
Institution: Università degli Studi di Napoli Federico II
Department: Neuroscienze
Scuola di dottorato: Medicina molecolare
Dottorato: Neuroscienze
Ciclo di dottorato: 24
Coordinatore del Corso di dottorato:
nome
email
Annunziato, Lucio
lannunzi@unina.it
Tutor:
nome
email
Santoro, Lucio
lusantor@unina.it
Date: 29 November 2011
Number of Pages: 30
Keywords: dystonia, linkage analysis, polimorphisms
Settori scientifico-disciplinari del MIUR: Area 06 - Scienze mediche > MED/26 - Neurologia
Date Deposited: 07 Dec 2011 10:50
Last Modified: 30 Apr 2014 19:47
URI: http://www.fedoa.unina.it/id/eprint/8680
DOI: 10.6092/UNINA/FEDOA/8680

Collection description

Objectives. To identify novel genetic loci associated with primary adult-onset dystonia (AOD) and assess candidate genes from the literature. Secondary aimes. Epidemiological studies: to identify the rate of family history in people affeceted by AOD in Italy and to assess the impact of enviromental factors and clinical features between sporadic and familial cases. Background/rationale. Primary AOD has variable clinical expression as blepharospasm, oromandibular dystonia, cervical dystonia, laryngeal dystonia and arm dystonia. It usually starts after the age of twenty, has a peak age incidence between the 5th and the 7th decade, and predominates in women. Prevalence estimates vary widely across studies, but crude rates between 430 and 2250 cases per million are probably close to the true prevalence of the condition. AOD can be highly disabling and carry social and financial costs. Primary adult-onset dystonia is assumed to be partly genetic due to its aggregation within families and the identification of specific genetic loci including DYT 1, 2, 4, 6, 7, 13, 16, 17. Linkage to these loci is rare and accounts only for a small fraction of patients with adult-onset dystonia. Hence the gene(s) that lend risk to commonly occurring adult-onset primary dystonia are not known. Description of the project. The present project combines the clinical and genetic expertise of 9 leading Italian movement disorders centers. Data were collected from a wide, representative Italian sample of patients with AOD and their first degree relatives. Genetic factors will be studied by the affected sibling pair method (ASP) that allows identification of novel disease associated-loci, and also offers the potential to study candidate gene from the literature.

Downloads

Downloads per month over past year

Actions (login required)

View Item View Item