Abstract Details

Title Multifocal Neuropathy with Upper Limb Onset as a Frequent Phenotype in Familial Amyloid Polyneuropathy in France

Topic Peripheral Nerve

Presentation(s) P05 - (-)

Poster/Presentation
Number 065

Objective

Background BACKGROUND: The upper limb (UL) onset of FAP was first described in 1956 by Rukavina et al but until now, there have been very few reports on this unusual presentation.

Design/Methods DESIGN/METHODS: From the 119 patients included between 2008 and 2012 in the database of the French national referral center for FAP, we selected the 28 patients who had a multifocal neuropathy phenotype with UL onset. We retrospectively reviewed their clinical, genetic, neurophysiologic and histopathologic characteristics.

Results RESULTS: There were 23 men. Mean age at onset was 62.6 years(41-84). Mean time to diagnosis was 4 y.(1-21.7). There were 9 different TTR mutations (ValMet30 in 12).The first upper limb symptoms were purely sensory in 25 patients, without any troncular topography in all cases. The median NIS-upper limb at time of diagnosis was 24.64 (0-60.25). Lower limb sensory symptoms began 2.6 y.(0.5-10) after upper limb symptoms. Vegetative symptoms occurred in 17 patients,with an orthostatic hypotension in 12 at a mean delay of 18 months after UL onset. The nerve conduction studies (performed at a mean delay of 3.1 y. after onset) disclosed a multifocal sensorymotor axonal neuropathy with a more severe SNAPs amplitude decrease in median nerves than in ulnar or sural nerves. All patients had endoneurial isolated or perivascular amyloid deposits. 8/13 had epineurial amyloid deposits,most were in the vessel walls. Inflammatory infiltrates were present in 4/13 patients. Massive myelinated fibers loss was seen in 11/13pts, and of unmyelinated fibers in 10/13 pts.

Conclusions CONCLUSIONS: In France, FAP presenting a MFN with upper limb onset are common. Initial clinical symptoms usually have no troncular topography. This phenotype could be due to an epineurial vessels occlusion by amyloid deposits, which may mimick vascularitic neuropathies.

Authors/Disclosures
Marie Theaudin, MD (Centre Hospitalier) PRESENTER	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Pierre Lozeron (C. H. de Bicetre)	No disclosure on file
Pamela A. McCombe, MD (Dr PA McCombe Medical Pty Ltd)	Dr. McCombe has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. McCombe has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. McCombe has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genzyme. The institution of Dr. McCombe has received research support from Motor Neurone Disease Resaerch Institute of Australia.
	No disclosure on file
David D. Adams (APHP)	David D. Adams has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for ALNYLAM. David D. Adams has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer.
	No disclosure on file

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