Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis

Joe Verghese, K. Weidenheim, S. Malik, I. Rapin

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

Pigmentary type of orthochromatic leukodystrophy (POLD) is an adult-onset leukodystrophy, characterized pathologically by the presence of glial and microglial cytoplasmic pigment inclusions. The complete phenotype, genotype and pathogenetic mechanisms in POLD have not been elucidated. We followed for 18 years a woman with autopsy-proven POLD, who presented with 'frontal' dementia and spasticity. Her further course was marked by progressive mutism, apraxia and seizures. Her sister had died of the same disease after a much more rapidly progressing course. These sisters had primary infertility with pathologic evidence of streak ovaries. Diagnosis was confirmed in both cases by post-mortem examination. POLD is a rare cause of adult-onset leukodystrophy presenting with dementia. Ovarian dysgenesis is extremely rare in the absence of demonstrable chromosomal abnormalities and extends the clinical spectrum of POLD.

Original languageEnglish (US)
Pages (from-to)663-670
Number of pages8
JournalEuropean Journal of Neurology
Volume9
Issue number6
DOIs
StatePublished - Nov 1 2002

Keywords

  • Dementia
  • Ovarian dysgenesis
  • Pigmentary leukodystrophy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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