NREM-related parasomnias in Machado–Joseph disease: clinical and polysomnographic evaluation GISELLE MELO FONTES SILVA, JOS  E LUIZ PEDROSO, DIOGO FERNANDES DOS SANTOS, PEDRO BRAGA-NETO, LUCILA BIZARI FERNANDES DO PRADO, LUCIANE BIZARI COIN DE CARVALHO, ORLANDO G. P. BARSOTTINI and GILMAR FERNANDES DO PRADO Department of Neurology, Universidade Federal de S~ ao Paulo, S~ ao Paulo, Brazil Keywords Machado–Joseph disease, NREM-related parasomnias, polysomnography, sleep disorders, spinocerebellar ataxia type 3 Correspondence Dr Jos e Luiz Pedroso, Department of Neurology, Universidade Federal de S~ ao Paulo, S~ ao Paulo, Brazil. Tel.: +55-11-5575-5240; Fax: +5511-5081-5005; e-mail: jlpedroso.neuro@gmail.com Accepted in revised form 14 July 2015; received 31 October 2014 DOI: 10.1111/jsr.12330 SUMMARY Spinocerebellar ataxias (SCA) are autosomal dominant neurodegener- ative disorders that affect the cerebellum and its connections, and have a marked clinical and genetic variability. Machado–Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3)—MJD/SCA3—is the most common SCA worldwide. MJD/SCA3 is characterized classically by progressive ataxia and variable other motor and non-motor symptoms. Sleep disorders are common, and include rapid eye movement (REM) sleep behaviour disorder (RBD), restless legs syndrome (RLS), insom- nia, excessive daytime sleepiness, excessive fragmentary myoclonus and sleep apnea. This study aims to focus upon determining the presence or not of non-REM (NREM)-related parasomnias in MJD/SCA 3, using data from polysomnography (PSG) and clinical evaluation. Forty-seven patients with clinical and genetic diagnosis of MJD/SCA3 and 47 control subjects were evaluated clinically and by polysomnog- raphy. MJD/SCA3 patients had a higher frequency of arousals from slow wave sleep (P < 0.001), parasomnia complaints (confusional arousal/ sleep terrors, P = 0.001; RBD, P < 0.001; and nightmares, P < 0.001), REM sleep without atonia (P < 0.001), periodic limb movements of sleep index (PLMSi) (P < 0.001), percentage of N3 sleep (P < 0.001) and percentage of N1 sleep (P < 0.001). These data show that NREM- related parasomnias must be included in the spectrum of sleep disorders in MJD/SCA3 patients. INTRODUCTION Spinocerebellar ataxias (SCA) are autosomal dominant neurodegenerative disorders that affect the cerebellum and its connections, and have a marked clinical and genetic variability (Matilla-Duenas, 2012). Currently, 37 SCA sub- types have been described, and Machado–Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA 3)—MJD/SCA3 —is the most common SCA worldwide (Pedroso et al., 2012b). MJD/SCA3 is characterized by progressive ataxia, ophthalmoplegia, nystagmus, extrapyramidal features and variable non-motor symptoms (D’Abreu et al., 2010). The main non-motor symptoms observed are sleep disorders, cognitive impairment, psychiatric complaints, olfactory dysfunction, pain, fatigue and cramps (Braga-Neto et al., 2011; Braga-Neto et al., 2012). With regard to sleep disor- ders, the most frequent ones observed in MJD/SCA3 include rapid eye movement (REM) sleep behaviour disorder (RBD), restless legs syndrome (RLS), insomnia, excessive daytime sleepiness, excessive fragmentary myoclonus and sleep apnea, and may be considered important modifiers of life quality (Dos Santos et al., 2014; Pedroso et al., 2012a; Pedroso et al., 2013; Pedroso et al., 2014). Parasomnias are undesirable physical events or experi- ences that occur during entry into sleep, within sleep or during arousals from sleep (American Academy of Sleep Medicine, 2014), and are classified into non-REM (NREM)- related parasomnia, REM-related parasomnia and other ª 2015 European Sleep Research Society 11 J Sleep Res. (2016) 25, 11–15 Spinocerebellar ataxia and sleep