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.
Publication types
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Case Reports
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Ataxia / genetics
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Cerebellar Diseases / genetics
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Cerebellar Diseases / pathology
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Cerebellar Diseases / psychology
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Fragile X Mental Retardation Protein / genetics*
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Fragile X Syndrome / genetics
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Fragile X Syndrome / pathology
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Fragile X Syndrome / psychology
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Heredodegenerative Disorders, Nervous System / genetics
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Heredodegenerative Disorders, Nervous System / pathology
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Heredodegenerative Disorders, Nervous System / psychology
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Humans
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Mutation*
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Tremor / genetics
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Trinucleotide Repeat Expansion
Substances
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FMR1 protein, human
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Fragile X Mental Retardation Protein