title: Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration.
authors.affiliation: Unit of Neurometabolic Disease and Research Centre for Diagnosis, Prevention and Therapy of Neurohandicaps, University of Siena, Siena, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Rufa
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Lucia
authors.initials: L
authors.lastname: Galli
authors.forename: Alfredo
authors.initials: A
authors.lastname: Orrico
authors.forename: Francesco
authors.initials: F
authors.lastname: Sicurelli
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D000483:Alleles; D000067719:Ataxin-7; D000067528:Ataxins; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics; D010857:Pigment Epithelium of Eye; D011506:Proteins / Q000235:genetics; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*
chemical_list: C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D011506:Proteins