Spinocerebellar Ataxias - A Systematic Review.

MALCO ROSSI; SANTIAGO PEREZ LLORET; DANIEL CERQUETTI; MARCELO MERELLO

San Diego

Congreso; American Academy of Neurology 65th Annual Meeting; 2013

American Academy of Neurology

OBJECTIVE:To perform a systematic review on demographic and clinical features of spinocerebellar ataxias (SCA).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.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.