A Patient with Fragile X-Associated Tremor/Ataxia Syndrome Presenting with Executive Cognitive Deficits and Cerebral White Matter Lesions
Open Access
- 24 May 2011
- journal article
- Published by S. Karger AG in Case Reports in Neurology
- Vol. 3 (2), 118-123
- https://doi.org/10.1159/000328838
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that primarily affects males who are carriers of a premutation of a CGG expansion in the FMR1 gene. In Asian populations, FXTAS has rarely been reported. Here, we report the case of a Japanese FXTAS patient who showed predominant executive cognitive deficits as the main feature of his disease. In contrast, the patient exhibited only very mild symptoms of intention tremor and ataxia, which did not interfere with daily activities. A gene analysis revealed that the patient carried a premutation of a CGG expansion (111 CGG repeats) in the FMR1 gene. The mRNA expression level of FMR1 in the patient was 1.5-fold higher than in controls. On brain MRI scans, fluid-attenuated inversion recovery images showed high-intensity lesions in the middle cerebellar peduncles and the cerebral white matter, with a frontal predominance. The present case extends previous notions regarding the cognitive impairment in FXTAS patients. Recognizing FXTAS patients with predominant cognitive impairment from various ethnic backgrounds would contribute to our understanding of the phenotypic variation of this disease.Keywords
This publication has 12 references indexed in Scilit:
- A Japanese Case of Fragile-X-Associated Tremor/ataxia Syndrome (FXTAS)Internal Medicine, 2010
- Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndromeGeneral Hospital Psychiatry, 2007
- Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelinesMovement Disorders, 2007
- ATYPICAL CLINICAL COURSE OF FXTAS: RAPIDLY PROGRESSIVE DEMENTIA AS THE MAJOR SYMPTOMNeurology, 2007
- Impairment of executive cognitive functioning in males with fragile X‐associated tremor/ataxia syndromeMovement Disorders, 2007
- Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS)Journal of the Neurological Sciences, 2006
- An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 GeneThe Journal of Molecular Diagnostics, 2005
- Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging CorrelatesAmerican Journal of Human Genetics, 2003
- Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile XNeurology, 2001
- Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X SyndromeAmerican Journal of Human Genetics, 2000