Acta Neuropathologica

, Volume 88, Issue 4, pp 277–286

On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family

  • J. -J. Martin
  • L. Krols
  • C. Ceuterick
  • C. Van Broeckhoven
  • N. Van Regemorter
  • F. Hayer-Delatte
  • J. -M. Brucher
  • T. de Barsy
  • H. Szliwowski
  • P. Evrard
  • M. -J. Tassignon
  • H. Smet-Dieleman
  • P. J. Willems
Regular Paper
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Abstract

We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the clinical symptoms: some patients remain nearly asymptomatic throughout their entire life; others develop severe retinal and cerebellar symptoms after the age of 35 years; others suffer from a severe disorder with onset in adolescence and death during the third decade of life; in others the onset is in early childhood with prevalence of cerebellar symptoms. There is neither dementia nor epilepsy in any of the patients. Four out of five autopsies showed a severe retinal atrophy, and all five autopsies were also characterized by (1) a cerebellar atrophy affecting the spinocerebellar and olivocerebellar tracts, the cerebellar cortex and the efferent cerebellar pathways, (2) an involvement of the pyramidal pathways and of the motor neurons of brain stem and spinal cord, and (3) an atrophy of the subthalamic nucleus and to a much lesser extent of the pallidum, with also some damage to the substantia nigra. The posterior columns are much less affected except in one patient. In this family, we have excluded linkage with the two loci for spinocerebellar ataxia, i.e., SCA1 on chromosome 6p and SCA2 on chromosome 12q as well as with the locus for Machado-Joseph disease (MJD) on chromosome 14q. A genome-wide search is currently being performed to detect the disease locus responsible.

Key words

Autosomal dominant disease Cone dystrophy Cerebellar atrophy Multiple system atrophy Linkage 

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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • J. -J. Martin
    • 1
    • 9
  • L. Krols
    • 1
  • C. Ceuterick
    • 1
  • C. Van Broeckhoven
    • 1
  • N. Van Regemorter
    • 2
  • F. Hayer-Delatte
    • 2
  • J. -M. Brucher
    • 3
  • T. de Barsy
    • 4
  • H. Szliwowski
    • 5
  • P. Evrard
    • 6
  • M. -J. Tassignon
    • 7
  • H. Smet-Dieleman
    • 7
  • P. J. Willems
    • 8
  1. 1.Laboratory of Neuropathology and NeurogeneticsBorn-Bunge Foundation and University of AntwerpWilrijkBelgium
  2. 2.Centre de Génétique de BruxellesFree University of BrusselsBelgium
  3. 3.Laboratory of Neuropathology, St-Luc University HospitalCatholic University of LouvainBrusselsBelgium
  4. 4.Department of Neurology, William Lennox Neurological CentreCatholic University of LouvainOttigniesBelgium
  5. 5.Département de Neurologie Pédiatrique, Hôpital ErasmeUniversité Libre de BruxellesBrusselsBelgium
  6. 6.Department of Paediatric Neurology, St-Luc University HospitalCatholic University of LouvainBrusselsBelgium
  7. 7.Department of Ophthalmology, University Hospital of AntwerpUniversity of AntwerpWilrijkBelgium
  8. 8.Department of Medical GeneticsUniversity of AntwerpWilrijkBelgium
  9. 9.Gebouw T, Lokaal 5-18, Universitaire Instelling AntwerpenWilrijk, AntwerpenBelgium

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