Abstract Details

Title Disease Progression in Hereditary Sensory and Autonomic Neuropathy Type I (HSAN1)

Topic Peripheral Nerve

Presentation(s) S26 - (-)

Poster/Presentation
Number 003

Objective

Background HSAN1 is a rare autosomal dominant, sensory motor axonal polyneuropathy caused by several missense mutations in the genes encoding 2 of the 3 subunits of the enzyme serine palmitoyltransferase (SPT). Clinical features include loss of pain and temperature sensation with variable degrees of distal motor weakness. While the clinical phenotype of HSAN1 has been described in detail, the natural history of the illness has not been well defined.

Design/Methods 23 patients carrying either the C133W or C133Y mutations in SPTLC1 were asked to complete a detailed questionnaire addressing a series of sensory and motor symptoms as well as the age of onset at which each of the symptoms occurred.

Results The mean age of symptom onset was 26.3 years (range 14-55 years). 20/23 (0.87%) patients reported sensory loss as their initial symptom. 17/23 (74%) patients reported motor weakness. The time between initial neuropathic symptoms and the development of motor weakness averaged 9.8 years (range 0-48, n=11). 19/23 (82%) patients reported difficulty with balance. The latency between first symptoms and balance difficulty was 7.1 years (n=15, range 2-19). 22/23 (95.7%) of patients reported shooting pain. The average age when shooting pain began was 33.5 years (range 21-55). Pain developed an average of 7.7 years following initial sensory symptoms. The development of ulcers occurred an average of 9.3 years following initial neuropathic symptoms (range 0-21, n=15).

Conclusions Our study defines the rate of disease progression in HSAN1 based on retrospective survey data. An understanding of the timing and symptom latency facilitates clinical trial design and the development of optimal biomarkers.

Authors/Disclosures
Vera Fridman, MD (University of Colorado School of Medicine) PRESENTER	Dr. Fridman has nothing to disclose.
William S. David, MD, PhD, FAAN (EMG /Neuromuscular Unit)	Dr. David has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for Dysimmune Disorders foundation. Dr. David has received publishing royalties from a publication relating to health care.
Michael Girouard	No disclosure on file
	No disclosure on file
Florian Eichler, MD (Massachusetts General Hospital)	An immediate family member of Dr. Eichler has received personal compensation for serving as an employee of UpToDate. Dr. Eichler has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for SwanBio Therapeutics. Dr. Eichler has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alnylam. Dr. Eichler has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Leal Therapeutics. Dr. Eichler has received personal compensation in the range of $100,000-$499,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Swan Bio. Dr. Eichler has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sanofi. Dr. Eichler has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for UpToDate. Dr. Eichler has stock in SwanBio Therapeutics. The institution of Dr. Eichler has received research support from Minoryx Therpeutics. The institution of Dr. Eichler has received research support from ASPA Therapeutics. The institution of Dr. Eichler has received research support from bluebird bio. The institution of Dr. Eichler has received research support from Ionis Pharmaceuticals. Dr. Eichler has received intellectual property interests from a discovery or technology relating to health care.

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