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White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism
Author(s) -
Loesch D.Z.,
Kotschet K.,
Trost N.,
Greco C.M.,
Kinsella G.,
Slater H.R.,
Venn A.,
Horne M.
Publication year - 2011
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.31189
Subject(s) - parkinsonism , white matter , allele , fmr1 , neuroscience , medicine , psychology , biology , genetics , magnetic resonance imaging , disease , gene , radiology
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.