Gene dosage influences the age at onset of SCA2 in a family from southern Italy (Articolo in rivista)

Type
Label
  • Gene dosage influences the age at onset of SCA2 in a family from southern Italy (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Alternative label
  • Spadafora P, Annesi G, Liguori M, Tarantino P, Cutuli N, Carrideo S, Ciro Candiano IC, De Marco EV, Civitelli D, Annesi F, Giuffrida S, Quattrone A (2007)
    Gene dosage influences the age at onset of SCA2 in a family from southern Italy
    in Clinical genetics
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Spadafora P, Annesi G, Liguori M, Tarantino P, Cutuli N, Carrideo S, Ciro Candiano IC, De Marco EV, Civitelli D, Annesi F, Giuffrida S, Quattrone A (literal)
Pagina inizio
  • 381 (literal)
Pagina fine
  • 383 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 72 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 4 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Neurological Sciences, National Research Council, Cosenza, Italy, Laboratory of Molecular Genetics, Department of Services, and Institute of Neurology, Department of Neurosciences, University of Catania, Catania, Italy, and dInstitute of Neurology University ‘Magna Graecia’, Catanzaro, Italy (literal)
Titolo
  • Gene dosage influences the age at onset of SCA2 in a family from southern Italy (literal)
Abstract
  • Spinocerebellar ataxia type 2 (SCA2) is the most common form of autosomal dominant cerebellar ataxia in southern Italy (1). The expansion of a CAG trinucleotide repeat in exon 1 of the SCA2 gene, located on chromosome 12q23-24.1, is responsible for the disease. Normal alleles have 14 to 31 CAG repeats interrupted by one to three CAA trinucleotides, whereas expanded alleles have 33 to over 200 pure repeats, as reported in neonatal cases (2). Clinically, SCA2 is characterized by gait and limb ataxia, dysarthria, slow saccadic eye movements, supranuclear ophthalmoplegia and peripheral neuropathy. Recently, several patients have been described with expansion in the SCA2 gene and an L-dopa responsive parkinsonism (literal)
Prodotto di
Autore CNR

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
data.CNR.it