Abstract Details

Title Autonomic Dysfunction in the Fragile X Associated Tremor/Ataxia Syndrome

Topic Movement Disorders

Presentation(s) (-)

Poster/Presentation
Number 007

Objective

Background Fragile X- associated tremor ataxia syndrome (FXTAS) is caused by a trinucleotide expansion of a CGG repeat in the FMR1 gene on the X chromosome. Its clinical hallmarks are intention/action tremor, ataxia, parkinsonism and cognitive dysfunction. Autonomic dysfunction has also been suggested in some studies but remains to be established.

Design/Methods 56 FMR1 premutation carriers were recruited from an ongoing study at Emory University. Carriers underwent an abbreviated neurologic exam and completed the SCOPA-AUT. They were also administered motor scales for tremor, ataxia, parkinsonism, and the Montreal Cognitive Assessment battery (MOCA). SCOPA-AUT results were compared against those published in controls, and in patients with Parkinson Disease and Huntington Disease.

Results FMR1 premutation carriers scored higher than published controls in the urinary symptoms subscale of the SCOPA-AUT (49 vs. 22, p<0.01). They did not differ in any other SCOPA-AUT domain. Severity of urinary symptoms was significantly associated with the ataxia score in the ICARS rating scale (r = - 0.42, p=0.002), with tremor in the r = -0.020), and in the motor subscale of the UPDRS (r -0.38, p= 0.005). The total SCOPA-AUT score correlated with MOCA scores (r = 0.39, p = 0.016). FMR1 carriers had higher total SCOPA-AUT scores than HD subjects but lower than those of PD subjects.

Conclusions This data suggests that FMR1 premutation carriers have more urinary dysfunction than controls and HD patients, but not as much PD patients. It does not support a more generalized involvement of autonomic function. The correlation between urinary symptoms, motor and cognitive scores, raises the possibility that urinary symptomatology may be a marker of central neurodegeneration in FMR1carriers and FXTAS.

Authors/Disclosures
Joash T. Lazarus, MD (Atlanta Neuroscience Institute) PRESENTER	Dr. Lazarus has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Biogen. Dr. Lazarus has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Bristol Myers squib. Dr. Lazarus has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for USWM. Dr. Lazarus has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for arcadia. Dr. Lazarus has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for acorda. Dr. Lazarus has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Neurocrine. Dr. Lazarus has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for allergan. The institution of Dr. Lazarus has received research support from Genentech.
	No disclosure on file
	No disclosure on file
Howard Feldman, MD, FAAN (University of California San Diego)	The institution of Dr. Feldman has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Novo Nordisk. The institution of Dr. Feldman has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Janssen Research & Development LLC. The institution of Dr. Feldman has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Tau Consortium. The institution of Dr. Feldman has received research support from US National Institute of Health NIH/NIA. The institution of Dr. Feldman has received research support from Vivoryon Therapeutics. The institution of Dr. Feldman has received research support from US National Institute of Health NIH/NIA. The institution of Dr. Feldman has received research support from US National Institute of Health NIH/NIA. The institution of Dr. Feldman has received research support from US National Institute of Health NIH/NIA. The institution of Dr. Feldman has received research support from US National Institute of Health NIH/NIA. The institution of Dr. Feldman has received research support from US National Institute of Health NIH/NIA. The institution of Dr. Feldman has received research support from Allyx Pharmaceuticals. The institution of Dr. Feldman has received research support from Canadian Institutes of Health Research . Dr. Feldman has received intellectual property interests from a discovery or technology relating to health care. Dr. Feldman has a non-compensated relationship as a Medical Advisory Council with Association for Frontotemporal Degeneration (AFTD) that is relevant to AAN interests or activities. Dr. Feldman has a non-compensated relationship as a International Scientific Advisory Board with Translating Research in Elder Care (TREC) that is relevant to AAN interests or activities. Dr. Feldman has a non-compensated relationship as a Conference, Presenter with Royal Society of Canada that is relevant to AAN interests or activities. Dr. Feldman has a non-compensated relationship as a Conference, Presenter with Banner Health that is relevant to AAN interests or activities. Dr. Feldman has a non-compensated relationship as a Conference, Presenter, Manuscript Author with University of British Columbia that is relevant to AAN interests or activities.
	No disclosure on file
Jorge L. Juncos, MD (Emory University School of Medicine Brain Helath Clinic)	No disclosure on file

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