title: Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.
abstract: A heterogeneous group of neurological disorders known as the spinocerebellar ataxias (SCA) are characterized by degeneration of the cerebellum, spinal cord and brainstem. We describe linkage analysis in four unusual SCA families revealing a distinct disease locus on chromosome 3p14-21.1. The disease in these families is distinguished from other forms of SCA by concomitant retinal degeneration. Initial visual problems leading to blindness, disabling ataxia and anticipation are seen in all kindreds. The anticipation in these families suggests a dynamic mutation at this locus. Eventual molecular characterization of this disease may provide valuable insights into the processes of both neural and retinal degeneration.
authors.affiliation: Department of Human Genetics, University of Utah, Salt Lake City 84112, USA.
authors.forename: L G
authors.initials: LG
authors.lastname: Gouw
authors.forename: C D
authors.initials: CD
authors.lastname: Kaplan
authors.forename: J H
authors.initials: JH
authors.lastname: Haines
authors.forename: K B
authors.initials: KB
authors.lastname: Digre
authors.forename: S L
authors.initials: SL
authors.lastname: Rutledge
authors.forename: A
authors.initials: A
authors.lastname: Matilla
authors.forename: M
authors.initials: M
authors.lastname: Leppert
authors.forename: H Y
authors.initials: HY
authors.lastname: Zoghbi
authors.forename: L J
authors.initials: LJ
authors.lastname: Ptácek
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000483:Alleles; D044383:Black People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3; D003117:Color Vision Defects / Q000150:complications; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012162:Retinal Degeneration / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D005819:Genetic Markers