Abstract Details

Title FXTAS: New Insights and the Need for Revised Diagnostic Criteria

Topic Movement Disorders

Presentation(s) S20 - (-)

Poster/Presentation
Number 006

Background FXTAS is defined by FMR1 premutation, cerebellar ataxia, intentional tremor and middle cerebellar peduncle (MCP) hyperintensities.

Objective

Design/Methods Description of a multicentric series. Clinical, morphologic (brain MRI, 123I-ioflupane SPECT) and neurophysiologic (tremor recording, nerve conduction studies) study in 22 patients with FXTAS including 4 women.

Results A total of 43% of patients had no family history of fragile X syndrome (FXS) which contrasts with previous FXTAS series. A total of 86% of patients had tremor and 81% peripheral neuropathy. We identified 3 electroclinical tremor patterns: essential-like (35%), cerebellar (29%) and parkinsonian (12%). Two electrophysiologic patterns evocative of non-length-dependent (56%) and length-dependent sensory neuropathy (25%) were identified. Corpus callosum splenium (CCS) hyperintensity was as frequent (68%) as MCP hyperintensities (64%). Sixty percent of patients had parkinsonism and 47% abnormal 123I-ioflupane SPECT. Unified Parkinson's disease rating scale motor score was correlated to abnormal 123I-ioflupane SPECT (p=0.02) and to CGG repeat number (p=0.0004). Scale for the assessment and rating of ataxia correlated with dentate nuclei hyperintensities (p=0.03) and CCS hyperintensity was a marker of severe disease progression (p=0.04).

Conclusions We recommend to include in the FXTAS testing guidelines both CCS hyperintensity and peripheral neuropathy and to consider them as new major radiologic and minor clinical criterion, respectively, for the diagnosis of FXTAS. FXTAS should also be considered in women or when tremor, MCP hyperintensities or family history of FXS are lacking. Our study broadens the spectrum of tremor, peripheral neuropathy and MRI abnormalities in FXTAS, hence reveals the need for revised criteria.

Authors/Disclosures
Mathieu Anheim PRESENTER	No disclosure on file
Emmanuelle Apartis, MD	No disclosure on file
	No disclosure on file
	No disclosure on file
Lawrence S. Honig, MD, PhD, FAAN (Columbia University Vagelos College of Physicians & Surgeons)	Dr. Honig has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eisai. Dr. Honig has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Honig has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Medscape. Dr. Honig has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Prevail. Dr. Honig has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Cortexyme. Dr. Honig has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Legal Firms . The institution of Dr. Honig has received research support from Roche. The institution of Dr. Honig has received research support from Eisau. Dr. Honig has received research support from Alector. The institution of Dr. Honig has received research support from Transposon.
	No disclosure on file
	No disclosure on file
Stephane Thobois, MD (Pierre Wertheimer Neurological Hospital)	No disclosure on file
Thomas De Broucker (Hopital De La Fontaine)	No disclosure on file
Pierre Pollak, MD	No disclosure on file
Alexandra Durr, MD (Salpetriere Hospital - Universite Pierre Et Marie Curie)	The institution of Dr. Durr has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB. The institution of Dr. Durr has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neurology Genetics. The institution of Dr. Durr has received research support from NIH. The institution of Dr. Durr has received research support from BIOGEN. The institution of Dr. Durr has received research support from MINORYX. The institution of Dr. Durr has received research support from TRIPLETS THERAPEUTICS. The institution of Dr. Durr has received research support from Servier. The institution of Dr. Durr has received research support from ANR. The institution of Dr. Durr has received research support from PTC.
Marie Vidailhet, MD, PhD (Salpetriere Hospital)	No disclosure on file
Alexis Brice, MD	Dr. Brice has received personal compensation in the range of $100,000-$499,999 for serving as an officer or member of the Board of Directors for ICM.

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