title: Excessive daytime somnolence in spinocerebellar ataxia type 1.
abstract: Autosomal dominant spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders which result in dysfunction of the neuronal systems of the spinal cord, brainstem, and cerebellum. The manifestations of daytime somnolence and abnormal sleep behavior have been described in SCA type 3 (SCA3) and SCA type 6 (SCA6), but as yet have not been described in SCA type 1 (SCA1). We report two cases of sleep disturbance, fatigue and excessive daytime somnolence in individuals with SCA1 and their progress through several therapies. These case studies are unique as they describe excessive daytime somnolence and sleep abnormalities in SCA1.
authors.affiliation: Melbourne Sleep Disorders Centre, East Melbourne, Victoria, 3002, Australia. dien@msdc.com.au
authors.forename: Dien
authors.initials: D
authors.lastname: Dang
authors.forename: David
authors.initials: D
authors.lastname: Cunnington
mesh_terms: D000203:Activities of Daily Living; D000547:Amantadine / Q000627:therapeutic use; D000067696:Ataxin-1; D000067528:Ataxins; D001933:Brain Stem / Q000503:physiopathology; D002531:Cerebellum / Q000503:physiopathology; D015283:Citalopram / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D003913:Dextroamphetamine / Q000627:therapeutic use; D018450:Disease Progression; D006970:Disorders of Excessive Somnolence / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009324:Naturopathy; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010479:Pergolide / Q000627:therapeutic use; D017286:Polysomnography; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D016896:Treatment Outcome
chemical_list: C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D015283:Citalopram; D010479:Pergolide; D000547:Amantadine; D003913:Dextroamphetamine