title: X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.
abstract: Linkage analysis was performed in a previously described family segregating for an X-linked progressive neurological disorder [Bertini et al., 1992]. In three generations, the disease was inherited from the mothers in seven affected males (Fig. 1). Five had severe congenital hypotonia and died during the first year of life. Two other boys (maternal cousins) were found to have severe congenital ataxia, late-onset progressive myoclonic encephalopathy, and selective macular degeneration; brain CT-scan showed moderate cerebellar vermis hypoplasia. Linkage analysis was carried out in 12 informative relatives using 35 microsatellite markers (Généthon) evenly distributed on the X chromosome. A multipoint analysis showed a significant linkage (Z > 2) between the disease and three markers in the Xp22.33 region: DYS403 (Z = 2.37, theta = 0) which maps in the pseudoautosomal region, DXS7099 (Z = 2.45, theta = 0), and DXS7100 (Z = 2.48, theta = 0). Further linkage analysis with more telomeric markers will refine the location of this severe X-linked encephalopathy.
authors.affiliation: Unité INSERM 129 de Recherche en Génétique et Pathologie Moléculaires, Faculté de Médecine Cochin, Paris, France.
authors.forename: V
authors.initials: V
authors.lastname: des Portes
authors.forename: L
authors.initials: L
authors.lastname: Bachner
authors.forename: T
authors.initials: T
authors.lastname: Brüls
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: P
authors.initials: P
authors.lastname: Billuart
authors.forename: N
authors.initials: N
authors.lastname: Soufir
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: M C
authors.initials: MC
authors.lastname: Vinet
authors.forename: E
authors.initials: E
authors.lastname: Malaspina
authors.forename: V
authors.initials: V
authors.lastname: Marchiani
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: A
authors.initials: A
authors.lastname: Kahn
authors.forename: E
authors.initials: E
authors.lastname: Franzoni
authors.forename: J
authors.initials: J
authors.lastname: Chelly
mesh_terms: D001259:Ataxia / Q000151:congenital* / Q000235:genetics; D004276:DNA, Satellite; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014960:X Chromosome
chemical_list: D004276:DNA, Satellite