Original Works

Acta Neuropathologica

, Volume 67, Issue 3, pp 289-295

First online:

Adult fragile X syndrome

Clinico-neuropathologic findings
  • R. D. RudelliAffiliated withNew York State Institute for Basic Research in Developmental Disabilities
  • , W. T. BrownAffiliated withNew York State Institute for Basic Research in Developmental Disabilities
  • , K. WisniewskiAffiliated withNew York State Institute for Basic Research in Developmental Disabilities
  • , E. C. JenkinsAffiliated withNew York State Institute for Basic Research in Developmental Disabilities
  • , M. Laure-KamionowskaAffiliated withNew York State Institute for Basic Research in Developmental Disabilities
  • , F. ConnellAffiliated withNew York State Institute for Basic Research in Developmental Disabilities
  • , H. M. WisniewskiAffiliated withNew York State Institute for Basic Research in Developmental Disabilities

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Summary

Fragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been reported.

The autopsy examination of a 62-year-old, moderately retarded man with the fra (X) syndrome confirmed the preferential involvement of cerebral and testicular structures in this disorder.Dendritic spine abnormalities of the type observed in trisomic chromosomal disorders were associated with synaptic immaturity. Severe testicular hypogonadism accompanied bilateralmacro-orchidism, normal penis, and unilateral hydrocele. Valvular, articular, and testicular interstitial compartments showed normal histochemical staining characteristics for glycoproteins and lipids.

Key words

Fragile X Synapses Dendritic spines Macro-orchidism Golgi stain