Publications

Authors:

Terracciano, A.; Casali, C.; Grieco, G. S.; Orteschi, D.; Di Giandomenico, S.; Seminara, L.; Di Fabio, R.; Carrozzo, R.; Simonati, Alessandro; Stevanin, G.; Zollino, M.; Santorelli, F. M.

Title:

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

Year:

2009

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

Neurogenetics

ISSN of journal:

1364-6745

N° Volume:

10

Number or Folder:

2

:

Springer-Verlag

Page numbers:

151-155

Keyword:

Array CGH; ARSACS; Chromosomal deletion

Short description of contents:

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy, with or without mental retardation. The array of mutations in SACS has expanded worldwide after the first description in Quebec. We herein report the identification of an unconventional SACS mutation, a large-scale deletion sized gene, in two unrelated patients. The clinical phenotype of the patients was similar to more canonical ARSACS cases, though it is was complicated by the unusual presence of hearing loss. Our findings suggest that a "microdeletion" on chromosome 13q12 represents a novel allelic variant associated with ARSACS, stressing the need for an expanded testing in molecular diagnostic laboratories. © 2008 Springer-Verlag.

Web page:

http://dx.doi.og/10.1007/s10048-008-0159-8

Product ID:

48426

Handle IRIS:

11562/325021

Last Modified:

December 2, 2022

Bibliographic citation:

Terracciano, A.; Casali, C.; Grieco, G. S.; Orteschi, D.; Di Giandomenico, S.; Seminara, L.; Di Fabio, R.; Carrozzo, R.; Simonati, Alessandro; Stevanin, G.; Zollino, M.; Santorelli, F. M., An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss «Neurogenetics» , vol. 10 , n. 2 , 2009 , pp. 151-155

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo