Abstract Details

Title Parkinsonism in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Revisited

Topic Movement Disorders

Presentation(s) P04 - (-)

Poster/Presentation
Number 160

Objective

Background BACKGROUND: A group of parkinsonian features has been described in FXTAS patients as a minor diagnostic criterion. Our recent work suggests that FXTAS patients may have parkinsonian features as part of their initial presentation more frequently than previously reported. The current study was intended to elaborate this important aspect of FXTAS designation from a clinical perspective.

Design/Methods DESIGN/METHODS: Retrospective videotape review of a cohort of FXTAS participants in a multi-centers study. Patients underwent a detailed neurological examination that included all except one item (i.e. rigidity) of the motor section of the Unified Parkinson's Disease Rating Scale (UPDRS). Following UK Parkinson's Disease Society Brain Bank Clinical Diagnostic Criteria, patients with both bradykinesia and rest tremor in the examination were considered as having parkinsonism. Comparison between FXTAS patients with and without parkinsonism and correlational analysis across the two FXTAS groups were conducted using SPSS.

Results RESULTS: Preliminary analysis in FXTAS patients (n=38, mean age = 66.5 ± 8.3, FXTAS stage = 3.1 ± 0.9) found 13.2% of cases met criteria for parkinsonism. There were no significant differences between the groups with and without parkinsonism in age, FXTAS stage or CGG repeat length. Across all patients, bradykinesia score significantly correlated with FXTAS stage (r = 0.36, p = 0.03), whereas rest tremor score did not (r = 0.04, p = 0.80). Neither bradykinesia nor rest tremor was significantly correlated with age or CGG repeat length (p > 0.13).

Conclusions CONCLUSIONS: The current study further elucidated the significant prevalence of parkinsonism in patients with FXTAS. We found that bradykinesia worsen with progression of FXTAS stage. Further investigation of the biological mechanisms of parkinsonism in FXTAS is warranted.

Authors/Disclosures
PRESENTER	No disclosure on file
Volker Limmroth, MD, PhD (City of Cologne / Cologne General Hospital (Merheim))	No disclosure on file
	No disclosure on file
	No disclosure on file
John M. Olichney, MD (Center for Mind and Brain)	No disclosure on file
Randi Hagerman	Randi Hagerman has received publishing royalties from a publication relating to health care.
Lin Zhang, MD, PhD, FAAN (UCDMC)	Dr. Zhang has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for supernus. Dr. Zhang has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for supernus. The institution of Dr. Zhang has received research support from Michael J. Fox Foundation.

��ɫ��

��ɫ��