A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes

D. Z. Loesch, M. Cook, L. Litewka, E. Gould, A. Churchyard, Flora Tassone, H. R. Slater, E. Storey

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Fragile X-associated tremor/ataxia (FXTAS) is a late onset disorder caused by a premutation in the FMR1 gene, in which neurological symptoms are associated with white matter (wm) changes, especially within the middle cerebellar peduncles (MCP sign), seen on magnetic resonance images (MRIs). We report a discrepancy between obvious radiological presentations and minimal clinical involvement in two younger male premutation carriers. These carriers, aged 52 and 39 years, showed distinct MCP sign, but reported no neurological symptoms. If this discrepancy represents the initial stage of FXTAS, our findings suggest the possibility of early diagnosis from MRI scans.

Original languageEnglish (US)
Pages (from-to)179-181
Number of pages3
JournalJournal of Medical Genetics
Volume45
Issue number3
DOIs
StatePublished - Mar 2008

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Magnetic Resonance Spectroscopy
Tremor
Ataxia
Early Diagnosis
Genes
Late Onset Disorders
Middle Cerebellar Peduncle
White Matter

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. / Loesch, D. Z.; Cook, M.; Litewka, L.; Gould, E.; Churchyard, A.; Tassone, Flora; Slater, H. R.; Storey, E.

In: Journal of Medical Genetics, Vol. 45, No. 3, 03.2008, p. 179-181.

Research output: Contribution to journalArticle

Loesch, D. Z. ; Cook, M. ; Litewka, L. ; Gould, E. ; Churchyard, A. ; Tassone, Flora ; Slater, H. R. ; Storey, E. / A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. In: Journal of Medical Genetics. 2008 ; Vol. 45, No. 3. pp. 179-181.
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