Research Article

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism†

  1. D.Z. Loesch1,2,*,
  2. K. Kotschet3,
  3. N. Trost3,
  4. C.M. Greco4,
  5. G. Kinsella1,
  6. H.R. Slater5,6,
  7. A. Venn7,
  8. M. Horne3,8,9

Article first published online: 28 MAR 2011

DOI: 10.1002/ajmg.b.31189

Issue

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Volume 156, Issue 4, pages 502–506, June 2011

Additional Information

How to Cite

Loesch, D., Kotschet, K., Trost, N., Greco, C., Kinsella, G., Slater, H., Venn, A. and Horne, M. (2011), White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 156: 502–506. doi: 10.1002/ajmg.b.31189

Author Information

  1. 1

    School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia

  2. 2

    The Chromosome and Chromatin Research Laboratory, The Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne/Parkville, Victoria, Australia

  3. 3

    St. Vincent's Hospital, Melbourne/Fitzroy, Victoria, Australia

  4. 4

    Department of Pathology, University of California Davis Medical Center, Sacramento, California

  5. 5

    Department of Paediatrics, University of Melbourne/Parkville, Victoria, Australia

  6. 6

    VCGS Cytogenetics Laboratory, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne/Parkville, Victoria, Australia

  7. 7

    Menzies Research Institute, University of Tasmania, Hobart, Australia

  8. 8

    Florey Neurosciences Institute, University of Melbourne/Parkville, Victoria, Australia

  9. 9

    Centre for Neuroscience, University of Melbourne/Parkville, Victoria, Australia

*School of Psychological Science, La Trobe University, Bundoora, Victoria 3086, Australia.

  1. †

    Please cite this article as follows: Loesch DZ, Kotschet K, Trost N, Greco CM, Kinsella G, Slater HR, Venn A, Horne M. 2011. White Matter Changes in Basis Pontis in Small Expansion FMR1 Allele Carriers With Parkinsonism. Am J Med Genet Part B 156:502–506.

Publication History

  1. Issue published online: 25 APR 2011
  2. Article first published online: 28 MAR 2011
  3. Manuscript Accepted: 4 MAR 2011
  4. Manuscript Received: 15 AUG 2010

Funded by

  • National Institutes of Child Health and Human Development Grant. Grant Number: HD 36071
  • NHMRC. Grant Number: 330400

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article (HTML) Get PDF (900K)

Keywords:

  • MRI changes;
  • Parkinson's disease;
  • fragile X

Abstract

Examples of white matter hyperintensities (wmh) on magnetic resonance images in a basis pontis are presented in two male carriers, each of whom carry a small CGG expansion fragile X mental retardation (FMR1) allele. One carried a premutation (PM) allele of 85 CGG repeats and the other, a gray zone (GZ) allele of 47 repeats. Both were originally diagnosed with idiopathic Parkinson's disease (iPD). Similar changes are also shown in one PM carrier of 99 repeats affected with mild tremor and imbalance, who was ascertained through a fragile X syndrome family. These examples draw attention to the occurrence of wmh in a basis pontis in the carriers of small CGG expansions presenting with tremor and ataxia. Moreover, the presence of this change in GZ, as well as PM, allele carriers originally diagnosed with iPD supports our earlier suggestion that both these alleles may contribute to the neurodegenerative changes in this disorder which, in the examples presented, have been reflected by wmh, most prominent in the cerebellar peduncles and/or pontine area. © 2011 Wiley-Liss, Inc.

View Full Article (HTML) Get PDF (900K)