Abstract Details

Title Autosomal Recessive Spastic Ataxia of Charlovoix-Saguenay. A new pathogenic mutation.

Topic Movement Disorders

Presentation(s) P1 - Poster Session 1 (5:30 PM-6:30 PM)

Poster/Presentation
Number 10-014

Objective To present a case of Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and propose a novel SACS variant as pathogenic.

Background ARSACS is a rare cause of early onset ataxia. Despite the long belief that the mutation is restricted to Quebec region, cloning the responsible gene, SACS, has led to identification of many pathogenic mutations worldwide. Patients often present in early childhoodwith the triad of early-onset cerebellar ataxia, lower limb spasticity, and peripheral neuropathy. Diagnosis is made based on clinical presentation and classic MRI findings as many of mutations in allele carriers around the world are still reported as SACS variants of unknown significance.

Design/Methods We present a case of a 31-year-old man with longstanding ataxia.

Results At age 6, he began experiencing gait disturbances, limb spasticity and muscle weakness. His exam was notable for gaze evoked nystagmus, significant pyramidal features including spasticity, weakness LE>UEs, and bilateral extensor Babinski sign. He had cerebellar ataxia features including dysmetria UE+LEs and intention tremor. Gait was spastic and ataxic. Work up was significant for mixed demyelinating axonal, sensorimotor peripheral neuropathy, and retinal nerve fiber layer thickening. Classic MRI findings (i.e. hypointense strips in the central pons and diffuse hyperintensity of the lateral pons when merging in to the middle cerebellar peduncles and thickened middle cerebellar peduncles) along with ataxia, spasticity and neuropathy were diagnostic for ARSACS. Genetic testing for SACS gene showed heterozygous mutation of uncertain significance (c.605A>G (p.Asp202Gly), c.90404T>C (p.Leu3135Ser).

Conclusions As genetic testing for mutations of the SACS gene is readily becoming available, a multitude of pathogenic mutations have recently been reported and a timely discussion on whether in future these mutations should be reported as pathogenic or not is necessary. Until ARSACS genetics become a standard tool of ataxia work-up, characteristic MRI features will help to establish the diagnosis.

Authors/Disclosures
Moira Flanigan, MD (University of Pennsylvania) PRESENTER	No disclosure on file
Yasaman Safarpour	No disclosure on file
	No disclosure on file
Nizar Chahin, MD	Dr. Chahin has nothing to disclose.
Delaram Safarpour, MD, MSCE, FAAN (Parkinson Center Oregon Health & Science University)	Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving as a Consultant for 2nd MD. Dr. Safarpour has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Boston Scientific. Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Medtronic. Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Insightec. Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for BlueRock. Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Acadia. Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Boston Scientific. The institution of Dr. Safarpour has received research support from Medtronic. The institution of Dr. Safarpour has received research support from Amneal. The institution of Dr. Safarpour has received research support from CND life science.

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