Sleep disorders in Machado-Joseph disease.

PURPOSE OF REVIEW: This article provides a description on clinical features and pathophysiology of the main sleep disorders observed in Machado-Joseph disease (MJD). RECENT FINDINGS: Pathological studies have clearly demonstrated that degenerative process in MJD is widespread in the nervous system, and not restricted to the cerebellum. Nonmotor manifestations are frequent and may include pain, cramps, dysautonomia, cognitive deficits, psychiatric manifestations, olfactory deficits, fatigue, nutritional issues, and sleep disorders. SUMMARY: Sleep disorders are frequent in MJD, and include restless legs syndrome, rapid eye movement sleep behavior disorder, excessive daytime sleepiness, insomnia, sleep apnea, periodic limb movements during sleep, parasomnia, and others. Pathophysiological mechanisms related to sleep disorders in Machado-Joseph are complex and poorly understood. Considering that sleep complaints are a treatable condition, recognizing sleep disorders in MJD is relevant.

Polysomnography findings in spinocerebellar ataxia type 6.

Spinocerebellar ataxia type 6 (SCA6) is usually described as a pure ataxia syndrome. However, SCA6 patients may have sleep complaints. In this paper, sleep disorders were investigated in patients with SCA6. Twelve SCA6 patients and 12 subjects matched by gender, age and body mass index (control group) underwent polysomnography and clinical investigation for sleep disorders. SCA6 had a higher frequency of snoring (P = 0.01), a higher index of awakening due to respiratory events (P = 0.003) and central apnea events during sleep (P = 0.024), a longer sleep Stage N1 (P = 0.02) and a lower sleep Stage N3 (P = 0.05) in SCA6 patients than in control subjects. SCA6 patients had a reduction in slow wave sleep and a higher frequency of snoring and respiratory disorders during sleep when compared to the control group.

Sleep disordered breathing in Parkinson's disease: a critical appraisal.

Parkinson's disease (PD) is the second most common neurodegenerative disorder, characterized by resting tremor, rigidity, bradykinesia and postural instability, and is associated with non-motor features, including sleep abnormalities. The high prevalence of excessive daytime sleepiness and snoring in PD patients has led to the suggestion that sleep disordered breathing (SDB) is more common in these individuals than in normal subjects. We aimed to review the literature on SDB prevalence and its clinical repercussions in PD. A PubMed search was performed to identify controlled studies, published from January 1990 through October 2012, which addressed the prevalence of SDB diagnosed by polysomnography in idiopathic PD. From the seven studies included, five reported similar or lower prevalence of SDB in patients when compared to healthy age-matched controls. Two studies reported less oxyhemoglobin desaturation during sleep among patients. These results did not support the idea that PD patients are at increased risk of SDB and indicate that they may not present significant hypoxemia. The prevalence of obstructive sleep apnea syndrome and the long-term outcomes of disordered breathing events during sleep have not been adequately studied in PD.

Restless legs syndrome: a qualitative analysis of psychosocial suffering and interdisciplinary attention.

The aim of this study is to investigate psychosocial factors related to the diagnosis and treatment of patients with restless legs syndrome. Fifteen patients were interviewed at the Neuro-Sono Outpatient Clinic, Universidade Federal de São Paulo. The results were submitted to a qualitative analysis. We identified four content categories: illness description, illness history, illness experience, and relationships. Lack of control over the body and lack of recognition by professionals produce stigma and lead patients to suffering. The research underscores the relevance of psychosocial factors to the diagnosis and treatment of patients with restless legs syndrome and the importance of having interdisciplinary teams when attending patients with restless legs syndrome.

Severity of restless legs syndrome is inversely correlated with echogenicity of the substantia nigra in different neurodegenerative movement disorders. a preliminary observation.

OBJECTIVE: Hyperechogenicity of the substantia nigra is a frequent observation on transcranial sonography in Parkinson's disease and Machado-Joseph disease patients. Additionally, restless legs syndrome is a sleep disorder that is also frequently found in both diseases. Autopsy studies have demonstrated increased SN iron content in hyperechogenic substantia nigra. Iron storage is also known to be involved in restless legs syndrome. We formally compared echogenicity of the substantia nigra with restless legs syndrome in Parkinson's disease and Machado-Joseph disease patients. METHODS: Transcranial brain sonography was performed in a sample of Parkinson's disease and Machado-Joseph disease patients, and findings then correlated with the presence and severity of restless legs syndrome. RESULTS: There was a continuum of substantia nigra echogenicity among groups (Parkinson's disease versus Machado-Joseph disease versus controls) and sub-groups (Parkinson's disease with and without restless legs syndrome versus Machado-Joseph disease with and without restless legs syndrome) as well as a statistically significant negative correlation between restless legs syndrome severity and substantia nigra echogenicity (p<0.001). CONCLUSIONS: These preliminary observations demonstrate that the severity of RLS may be influenced by nigral iron load reflected by substantia nigra echogenicity in different neurodegenerative movement disorders.