http://www.cnr.it/ontology/cnr/individuo/prodotto/ID225506

Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. (Articolo in rivista)

Type

Label

Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. (Articolo in rivista) (literal)

Anno

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

Alternative label

Dibilio V, Cavalcanti F, Nicoletti A, Mostile G, Bruno E, Annesi G, Tarantino P, Gagliardi M, Gambardella A, Quattrone A, Zappia M. (2013)
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy.
in Cerebellum (Lond., Print); SPRINGER, 233 SPRING ST, NEW YORK, NY 10013 (Stati Uniti d'America)
(literal)

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

Dibilio V, Cavalcanti F, Nicoletti A, Mostile G, Bruno E, Annesi G, Tarantino P, Gagliardi M, Gambardella A, Quattrone A, Zappia M. (literal)

Rivista

Note

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

Section of Neurosciences, Department GF Ingrassia, University of Catania, Via Santa Sofia 78, 95123, Catania, Italy. Institute of Neurological Sciences, National Research Council, Cosenza, Italy University of Magna Graecia, Catanzaro, Italy Institute of Neurology, Department of Medical Sciences, University of Magna Graecia-Catanzaro, Catanzaro, Italy Neuroimaging Research Unit, National Research Council, Catanzaro, Italy (literal)

Titolo

Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. (literal)

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset spastic ataxia, dysarthria, nystagmus, distal muscle wasting, peripheral neuropathy, finger and foot deformities, and hypermyelination of retinal nerve fibers . Brain imaging often reveals cerebellar hemispheres and superior vermis atrophy, spinal cord atrophy, and linear hypointensities of the pons . The gene SACS responsible for the ARSACS was mapped to chromosome 13q11 and consists in one gigantic and eight smaller upstream exons . We report a novel SACS mutation in a Sicilian family with ARSACS phenotype. (literal)

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