Abstract Details

Title A Systematic Review on Spinocerebellar Ataxias

Topic Movement Disorders

Presentation(s) (-)

Poster/Presentation
Number 010

Objective

Background SCA are characterized by progressive ataxia associated or not with either other neurological or extra-neurological signs. Currently classified in around 30 different genetic subtypes, the diversity kinds of clinical features and the difficulty in identifying familiar inheritance in many cases, makes clinical diagnosis a real challenge. Large series of patients are scantly reported and many genetic subtypes rely in isolated families reports, so accurate prevalence of clinical characteristics are difficult to estimate.

Design/Methods We searched for texts in several databases, including but not limited to MEDLINE and EMBASE, which were published until October 2011 in different languages, including English, Spanish, German, Italian, French and Portuguese. Original articles, letters and abstracts to medical meetings, among other kind of texts containing potentially demographic and clinical features of patients with genetically confirmed SCA were selected.

Results From 2291 revisited texts, 615 were appropriate for inclusion. There were 6389 patients (52% male) identified from 30 SCA subtypes, of which 19 had a male preponderance. Mean age of onset was 35.2 (range 0-86), being ataxia the predominant clinical feature only in 21 subtypes. Ataxic gait was present at onset in all subtypes and in 56% of 2505 patients with onset clinical features data, followed by dysarthria (11%) and other 35 clinical features with frequencies below 5%. Non-ataxia symptoms were present at onset in 22 subtypes and were predominant in 9. During disease progression the prevalence of the most frequent clinical symptoms were: gait ataxia (96%), limb ataxia (93%), dysarthria (90%), alterations of saccadic eye movements (67%), nystagmus and muscle cramps (60%), hypotonia (51%), dysphagia (43%), external ophtalmoparesia and sensory disturbance (41%).

Conclusions SCA encompass a broad spectrum of clinical features with an elevated frequency of non-ataxia symptoms.

Authors/Disclosures
Malco D. Rossi, MD (FLENI) PRESENTER	Dr. Rossi has nothing to disclose.
	No disclosure on file
	No disclosure on file
Maximiliano A. Hawkes, MD (Mayo Clinic)	Dr. Hawkes has or had stock in Navinetics-AI.
Patricio Millar Vernetti, MD (NYU Dysautonomia Center)	The institution of Dr. Millar Vernetti has received research support from NIH.
Marcelo Merello	No disclosure on file
Aksel Siva, MD (Istanbul University Cerrahpasa School of Medicine)	Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi-Genzyme. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen - TR. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ali Raif Pharmaceuticals, Turkiye. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanovel Pharmaceuticals, Turkiye. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Abdi Ibrahim Ilac - TR. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck Serono . The institution of Dr. Siva has received research support from Turkish MS Society. The institution of Dr. Siva has received research support from The Scientific and Technological Research Council Of Turkey - Health Sciences Research Grants.

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