Sleep disorders in cerebellar ataxias

Abstract

Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias, specially in autosomal dominant spinocerebellar ataxias (SCA). Among these nonmotor dysfunctions, sleep disorders have been recognized, although still under or even misdiagnosed. In this review, we highlight the main sleep disorders related to cerebellar ataxias focusing on REM sleep behavior disorder (RBD), restless legs syndrome (RLS), periodic limb movement in sleep (PLMS), excessive daytime sleepiness (EDS), insomnia and sleep apnea. Key words: sleep disorders, ataxias, diagnosis.Distúrbios do sono nas ataxias cerebelares RESUMO As ataxias cerebelares se caracterizam por uma enorme variedade de etiologias, cursando tanto com sintomas motores como também com sintomas não motores. Recentemente, várias evidências têm demonstrado uma frequência elevada de sintomas não motores nas ataxias cerebelares, especialmente nas ataxias espinocerebelares autossômicas dominantes (SCA). Dentre os sintomas não motores, estão os distúrbios do sono, que muitas vezes são sub-diagnosticados ou pouco valorizados. Nessa revisão, enfatizamos os principais distúrbios do sono relatados nas ataxias cerebelares, como transtorno comportamental do sono REM, síndrome das pernas inquietas, movimentos periódicos das pernas no sono, sonolência diurna excessiva, insônia e apnéia do sono. Palavras-chave: distúrbios do sono, ataxias, diagnóstico.

The Effects of Sleep Dysfunction on Cognition, Affect, and Quality of Life in Individuals with Cerebellar Ataxia

“…3,23,24 The average ESS score in our sample (8.67) was considerably higher than that reported in healthy controls (4.86), 23 and 33% had scores ≥ 10, indicating clinical significance. This is in stark contrast from the 5% to 15% prevalence observed in the general population.…”

“…Sleep disturbances commonly occur in cerebellar ataxia, with higher frequencies reported in the autosomal dominant spinocerebellar ataxias (SCA)-specifi cally SCA1, SCA2, SCA3 (Machado-Joseph disease), and SCA6-than in the other subtypes. 3 The most prevalent among these sleep disturbances are RBD, RLS, periodic leg movement disorder, excessive daytime sleepiness (EDS), insomnia, and obstructive sleep apnea. [2][3][4][5] Disordered sleep in cerebellar ataxias may come about through several pathways.…”

“…3 The most prevalent among these sleep disturbances are RBD, RLS, periodic leg movement disorder, excessive daytime sleepiness (EDS), insomnia, and obstructive sleep apnea. [2][3][4][5] Disordered sleep in cerebellar ataxias may come about through several pathways. Firstly, abnormal motor activity during sleep in individuals with cerebellar ataxia is most likely a result of damage to the well-defi ned cerebellar motor circuitry.…”

Depression as the Primary Cause of Insomnia and Excessive Daytime Sleepiness in a Family with Multiple Cases of Spinocerebellar Ataxia

“…RLS/WED has been reported in 18% to 27% of patients with SCA type 2, compared with 2% to 5% in the general population. 6 In conclusion, insomnia and EDS in SCA type 2 are highly associated with depression. It is crucial to recognize these symptoms in neurodegenerative diseases, not only to make an earlier diagnosis, but also to improve quality of life.…”

Hot cross bun sign resembling multiple system atrophy in a patient with Machado-Joseph disease

“…MJD may present with REM sleep behavior disorder and dysautonomia, similar to MSA, but to a lesser extent [1][2][3] . The "hot cross bun" sign is rarely found in MJD patients (1.3%), but it is a frequent brain imaging feature in MSA 4 .…”