title: MASA syndrome: clinical variability and linkage analysis.
abstract: We report on a family with three males with MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). One patient demonstrated spastic paraplegia and psychomotor retardation but no adducted thumbs. The described family underlines the clinical variability in MASA syndrome. DNA studies confirm linkage to DNA markers of the Xq28 region. Analysis of published cases with hereditary spastic paraplegia (HSP), where linkage studies have been carried out, emphasizes the clinical variability in MASA syndrome and other types of HSP, thus making a definite diagnosis in single cases often impossible.
authors.affiliation: Institut für Humangenetik der Universität Bonn, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Rietschel
authors.forename: W
authors.initials: W
authors.lastname: Friedl
authors.forename: S
authors.initials: S
authors.lastname: Uhlhaas
authors.forename: M
authors.initials: M
authors.lastname: Neugebauer
authors.forename: D
authors.initials: D
authors.lastname: Heimann
authors.forename: K
authors.initials: K
authors.lastname: Zerres
mesh_terms: D001037:Aphasia; D005260:Female; D005684:Gait; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities; D014960:X Chromosome