Sleep symptoms and their clinical correlates in Machado–Joseph disease


Iscia Lopes-Cendes, MD, PhD, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Tessalia Vieira de Camargo, 126, Campinas, SP 13084-971, Brazil
Tel.: +55 1935218907
Fax: +55 1932891818


Objective –  To evaluate the presence of sleep symptoms in Machado–Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3).

Subjects/methods –  We used a sleep questionnaire and the Epworth Sleepiness Scale to compare 53 patients with MJD/SCA3 and 106 controls.

Results –  Patients with MJD/SCA3 reported more symptoms of insomnia, restless leg syndrome and REM sleep behavior disorder as well as nocturnal cramps, snoring and nocturnal apnea. Insomnia was the most frequently reported sleep-related complaint in the MJD/SCA3 group.

Conclusions –  Our results indicate that sleep disorders are common in patients with MJD/SCA3 and probably have a multifactorial etiology, with components of a primary sleep disorder in addition to sleep-disrupting symptoms such as nocturia and cramps.