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


Loesch, DZ and Kotschet, K and Trost, N and Greco, CM and Kinsella, G and Slater, HR and Venn, A and Horne, M, White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism, American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 156, (4) pp. 502-506. ISSN 1552-4841 (2011) [Refereed Article]

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DOI: doi:10.1002/ajmg.b.31189


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.

Item Details

Item Type:Refereed Article
Keywords:MRI changes; Parkinson’s disease; fragile X
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurosciences not elsewhere classified
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Venn, A (Professor Alison Venn)
ID Code:70493
Year Published:2011
Web of Science® Times Cited:16
Deposited By:Menzies Institute for Medical Research
Deposited On:2011-06-23
Last Modified:2017-11-01

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