X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter

V. Des Portes, L. Bachner, T. Brüls, C. Beldjord, P. Billuart, N. Soufir, Th Bienvenu, M. C. Vinet, E. Malaspina, V. Marchiani, E. Bertini, A. Kahn, E. Franzoni, J. Chelly

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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 (Genethon) 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, θ = 0) which maps in the pseudoautosomal region, DXS7099 (Z = 2.45, θ = 0), and DXS7100 (Z = 2.48, θ = 0). Further linkage analysis with more telomeric markers will refine the location of this severe X-linked encephalopathy.

Original languageEnglish
Pages (from-to)69-72
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume64
Issue number1
DOIs
Publication statusPublished - Jul 12 1996

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Keywords

  • congenital ataxia
  • genetic mapping
  • macular degeneration
  • mental retardation
  • myoclonic encephalopathy
  • X-linked recessive

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Cite this

Des Portes, V., Bachner, L., Brüls, T., Beldjord, C., Billuart, P., Soufir, N., Bienvenu, T., Vinet, M. C., Malaspina, E., Marchiani, V., Bertini, E., Kahn, A., Franzoni, E., & Chelly, J. (1996). X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter. American Journal of Medical Genetics, 64(1), 69-72. https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<69::AID-AJMG10>3.0.CO;2-Q