Skip Navigation LinksHome > March 2010 - Volume 23 - Issue 1 > Fragile X Dementia Parkinsonism Syndrome (FXDPS)
Cognitive & Behavioral Neurology:
doi: 10.1097/WNN.0b013e3181b6e1b9
Case Reports

Fragile X Dementia Parkinsonism Syndrome (FXDPS)

Yachnis, Anthony T. MD* †; Roth, Heidi L. MD; Heilman, Kenneth M. MD* §

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Background/Objective: The fragile X-associated tremor/ataxia syndrome is characterized by intention tremor and ataxia in people who are premutation carriers of the Fragile X gene. Patients with this disorder might also demonstrate signs of dementia with parkinsonian features. We report a patient with dementia and parkinsonian signs who did not demonstrate an intention tremor or gait ataxia.

Methods: A 58-year-old woman who had 2 sons with fragile X retardation syndrome and was a carrier, developed progressive dementia, including impaired memory, executive dysfunction, nonfluent speech, and parkinsonian signs, but had no action-intention tremor and no gait ataxia. Magnetic resonance imaging revealed extensive abnormalities of the white matter.

Results: On post-mortem examination, 7 years after this evaluation, she demonstrated extensive subcortical white matter pallor (spongiosis) and widespread ubiquitin-positive intranuclear inclusions in both neurons and in protoplasmic astrocytes characteristic of fragile X-associated tremor/ataxia syndrome, but no spongiosis in the cerebellar peduncles a defining feature of this tremor/ataxia syndrome.

Conclusions: Patients who present with dementia and signs of Parkinson syndrome, even in the absence of ataxia or intention tremor should be evaluated for this fragile X dementia parkinsonism syndrome.

© 2010 Lippincott Williams & Wilkins, Inc.


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