Abstract Details

Title Clinical Characteristics and Progression Rate of Brazilian and Peruvian Patients with SCA10

Topic Movement Disorders

Presentation(s) IN6 - (-)

Poster/Presentation
Number 006

Objective

Background SCA10 is a rare SCA caused by expansion of an ATTCT repeat at ATXN10 gene. Nothing is known about the progression rate of its neurological deficits.

Design/Methods Patients with clinical picture of autosomal dominant spinocerebellar ataxia were ascertained from Brazil and Peru. Clinical and family data were collected. The expanded alleles at ATXN10 were detected by TP-PCR. In a subset of patients, NESSCA and SARA rating scales were applied at baseline and in a follow-up visit.

Results 25 individuals (15 families) were diagnosed (three families were already reported by Alonso et al 2006 and Almeida et al 2009). Three new patients (3 families) were from Peru; origins and family details will be reported separately. Mean (sd) age-at-onset and at-examination were of 34.7 (11) and 46.9 (12) years, anticipation ranging from -6 to 40. Most common findings were ataxia (100%), dysarthria (96%), pyramidal signs (86%), nystagmus (83%), ophthalmoparesis (64%), seizures (52%) and bradykinesia (50% of cases). Dysarthria, bradykinesia, and sensory losses seemed to be related to longer disease durations. Spells included tonic-clonic, partial complex or simple, and atonic seizures. SARA (0-40) and NESSCA (0-40 points) were measured twice in 12 patients from Rio Grande do Sul, Brazil. SARA and NESSCA scores worsened 0.352 (CI 95%: -0.212; 0.915) and 0.287 (CI 95%: -0.061; 0.635) points per year. These rates were not associated with seizures, depression, medication or rehabilitation, nor correlated with age-at-onset or disease duration. SARA scores correlated with NESSCA (R2=0.73, p<0.0001).

Conclusions We present 12 new South-American families with SCA10: 3 were the first Peruvian kindreds, whereas 9 are Brazilian. Seizures and pyramidal findings were frequent, in contrast with previous Brazilian reports (Teive et al, 2010). Neurological deterioration seemed to be slower in SCA10, than in other SCAs.

Authors/Disclosures
PRESENTER	No disclosure on file
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Panayiotis N. Varelas, MD, PhD, FAAN (Albany Med-Department of Neurology)	Dr. Varelas has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB. Dr. Varelas has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Astra Zeneca -Alexion - Portola. Dr. Varelas has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB. Dr. Varelas has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Astra Zeneca- Alexion-Portola. Dr. Varelas has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Marinus. Dr. Varelas has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for UCB. The institution of Dr. Varelas has received research support from Marinus. The institution of Dr. Varelas has received research support from Bayer. Dr. Varelas has received publishing royalties from a publication relating to health care. An immediate family member of Dr. Varelas has received personal compensation in the range of $5,000-$9,999 for serving as a Rep to the RUC meeting with AAN. Dr. Varelas has received personal compensation in the range of $500-$4,999 for serving as a Speaker at the Annual Meeting with AAN. Dr. Varelas has a non-compensated relationship as a President - Past President with Neurocritical Care Society that is relevant to AAN interests or activities.
Orlando G. Barsottini, MD, PhD (Universidade Federal de São Paulo)	Dr. Barsottini has nothing to disclose.
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Helio Van Der Linden, Jr.	No disclosure on file
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Mario R. Cornejo Olivas, MD (INSTITUTO NACIONAL DE CIENCIAS NEUROLOGICAS)	The institution of Dr. Cornejo Olivas has received research support from CONCYTEC-PROCIENCIA PERU. Dr. Cornejo Olivas has a non-compensated relationship as a Board member at Rare Disorders Burou (CCI-MINSA) with Ministry of Health in Peru that is relevant to AAN interests or activities.
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