title: Cerebellar cognitive affective syndrome in Machado Joseph disease: core clinical features.
abstract: The cerebellum is no longer considered a purely motor control device, and convincing evidence has demonstrated its relationship to cognitive and emotional neural circuits. The aims of the present study were to establish the core cognitive features in our patient population and to determine the presence of Cerebellar Cognitive Affective Syndrome (CCAS) in this group. We recruited 38 patients with spinocerebellar ataxia type 3 (SCA3) or Machado–Joseph disease (MJD)-SCA3/MJD and 31 controls. Data on disease status were recorded (disease duration, age, age at onset, ataxia severity, and CAG repeat length). The severity of cerebellar symptoms was measured using the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. The neuropsychological assessment consisted of the Mini-Mental State Examination, Clock Drawing Test, Wechsler Adult Intelligence Scale, Rey–Osterrieth Complex Figure, Wisconsin Card Sorting Test, Stroop Color–Word Test, Trail-Making Test, Verbal Paired Associates, and verbal fluency tests. All subjects were also submitted to the Hamilton Anxiety Scale and Beck Depression Inventory. After controlling for multiple comparisons, spatial span, picture completion, symbol search, Stroop Color–Word Test, phonemic verbal fluency, and Trail-Making Tests A and B were significantly more impaired in patients with SCA3/MJD than in controls. Executive and visuospatial functions are impaired in patients with SCA3/MJD, consistent with the symptoms reported in the CCAS. We speculate on a possible role in visual cortical processing degeneration and executive dysfunction in our patients as a model to explain their main cognitive deficit.
authors: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, 650 Pedro de Toledo St., Vila Clementino, São Paulo, SP, Brazil. pbraganeto@hotmail.com
authors: Pedro
authors: P
authors: Braga-Neto
authors: José Luiz
authors: JL
authors: Pedroso
authors: Helena
authors: H
authors: Alessi
authors: Lívia Almeida
authors: LA
authors: Dutra
authors: André Carvalho
authors: AC
authors: Felício
authors: Thaís
authors: T
authors: Minett
authors: Patrícia
authors: P
authors: Weisman
authors: Ruth F
authors: RF
authors: Santos-Galduroz
authors: Paulo Henrique F
authors: PH
authors: Bertolucci
authors: Alberto Alain
authors: AA
authors: Gabbai
authors: Orlando Graziani Povoas
authors: OG
authors: Barsottini
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001007:Anxiety / Q000523:psychology; D001288:Attention / Q000502:physiology; D002526:Cerebellar Diseases / Q000209:etiology* / Q000523:psychology; D003071:Cognition / Q000502:physiology; D015331:Cohort Studies; D003863:Depression / Q000523:psychology; D004644:Emotions / Q000502:physiology; D056344:Executive Function / Q000502:physiology; D005260:Female; D006801:Humans; D016015:Logistic Models; D017827:Machado-Joseph Disease / Q000150:complications* / Q000523:psychology; D008297:Male; D008570:Memory, Short-Term / Q000502:physiology; D008875:Middle Aged; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D011569:Psychiatric Status Rating Scales; D013028:Space Perception / Q000502:physiology; D014705:Verbal Behavior / Q000502:physiology