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The fragile X premutation presenting as essential tremor.
Maureen A Leehey1, Renato P Munhoz, Anthony E Lang
1Department of Neurology, University of Colorado Health Science Center, Denver, CO 80262, USA. maureen.leehey@uchsc.edu
Archives of Neurology
|January 21, 2003
Summary
Fragile X carriers may present with symptoms mimicking essential tremor, including intention tremor and gait issues. This highlights the importance of considering fragile X premutation in older men with these neurological signs.
Area of Science:
- Neurogenetics
- Neurology
- Movement Disorders
Background:
- Fragile X premutation is linked to a neurodegenerative syndrome in older men.
- Essential tremor is a common cause of tremor in the elderly, sometimes with gait and cognitive issues.
Observation:
- Two male fragile X carriers over 50 presented with symptoms mimicking essential tremor.
- Patients exhibited intention tremor, impaired tandem gait, and brain abnormalities on MRI.
Findings:
- Both patients had elevated fragile X mental retardation gene 1 mRNA and reduced protein levels.
- Neuropsychological testing revealed frontal executive deficits in one patient.
Implications:
- Fragile X carrier status should be considered in the differential diagnosis of essential tremor in older men.
- This finding expands the clinical spectrum associated with fragile X premutation.