Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis

Joe Verghese, Karen M. Weidenheim, S. Malik, I. Rapin

Research output: Contribution to journalArticle

17 Citations (Scopus)

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 2002

Fingerprint

Dementia
Siblings
Autopsy
Mutism
Apraxias
Inclusion Bodies
Neuroglia
Chromosome Aberrations
Infertility
Ovary
Seizures
Genotype
Phenotype

Keywords

  • Dementia
  • Ovarian dysgenesis
  • Pigmentary leukodystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis. / Verghese, Joe; Weidenheim, Karen M.; Malik, S.; Rapin, I.

In: European Journal of Neurology, Vol. 9, No. 6, 11.2002, p. 663-670.

Research output: Contribution to journalArticle

@article{76e6113f5fe64077a0bdf027883761e9,
title = "Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis",
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.",
keywords = "Dementia, Ovarian dysgenesis, Pigmentary leukodystrophy",
author = "Joe Verghese and Weidenheim, {Karen M.} and S. Malik and I. Rapin",
year = "2002",
month = "11",
doi = "10.1046/j.1468-1331.2002.00469.x",
language = "English (US)",
volume = "9",
pages = "663--670",
journal = "European Journal of Neurology",
issn = "1351-5101",
publisher = "Wiley-Blackwell",
number = "6",

}

TY - JOUR

T1 - Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis

AU - Verghese, Joe

AU - Weidenheim, Karen M.

AU - Malik, S.

AU - Rapin, I.

PY - 2002/11

Y1 - 2002/11

N2 - 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.

AB - 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.

KW - Dementia

KW - Ovarian dysgenesis

KW - Pigmentary leukodystrophy

UR - http://www.scopus.com/inward/record.url?scp=0036834772&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036834772&partnerID=8YFLogxK

U2 - 10.1046/j.1468-1331.2002.00469.x

DO - 10.1046/j.1468-1331.2002.00469.x

M3 - Article

VL - 9

SP - 663

EP - 670

JO - European Journal of Neurology

JF - European Journal of Neurology

SN - 1351-5101

IS - 6

ER -