Sleep disorders in Machado–Joseph disease: A dopamine transporter imaging study

• Published in: Journal of the neurological sciences 2013-01, Vol.324 (1), p.90-93
• Main Authors: Pedroso, José Luiz, Braga-Neto, Pedro, Felício, André C, Minett, Thais, Yamaguchi, Elton, Prado, Lucila Bizari Fernandes do, Carvalho, Luciane Bizari C, Dutra, Lívia Almeida, Hoexter, Marcelo Queiroz, da Rocha, Antônio José, Bressan, Rodrigo A, Prado, Gilmar Fernandes do, Barsottini, Orlando Graziani Povoas
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dopamine Plasma Membrane Transport Proteins - genetics; Dopamine Plasma Membrane Transport Proteins - metabolism; Dopamine transporter; Female; Humans; Machado-Joseph Disease - complications; Machado-Joseph Disease - diagnostic imaging; Machado-Joseph Disease - genetics; Machado–Joseph disease; Male; Medical sciences; Middle Aged; Neurology; Nocturnal Myoclonus Syndrome - etiology; Organotechnetium Compounds; Polysomnography; Repetitive Sequences, Nucleic Acid; Restless Legs Syndrome - etiology; Sleep disorders; Sleep Wake Disorders - diagnostic imaging; Sleep Wake Disorders - etiology; Sleep Wake Disorders - genetics; Spinocerebellar ataxia type 3; Tomography, Emission-Computed, Single-Photon; Tropanes
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/j.jns.2012.10.008

Abstract Objectives Sleep disorders, especially restless legs syndrome (RLS) and rapid eye movement sleep behavior disorder (RBD), are common in spinocerebellar ataxia type 3 or Machado–Joseph disease (MJD), and a possible underlying dopaminergic dysfunction is implicated. This study assessed the relationship between sleep disorders in MJD and dopamine transporter (DAT) densities. Patients and methods Twenty-two patients with MJD and twenty healthy subjects were enrolled in this study. MJD patients underwent clinical sleep evaluation and polysomnography. SPECT with [99m Tc]-TRODAT-1, was performed in all subjects. Results DAT densities were significantly reduced in MJD group when compared to controls. No significant correlation was found between DAT densities and RLS or RBD in MJD. Conclusion Our study failed to demonstrate a clear correlation between sleep disorders and DAT densities in MJD patients, hence suggesting that extrastriatal and non-presynaptic dopamine pathways could be implicated in MJD-related sleep disorders.