title: Minor cognitive disturbances in X-linked spinal and bulbar muscular atrophy, Kennedy's disease.
abstract: Spinal and bulbar muscular atrophy (SBMA), Kennedy's disease, is an adult-onset hereditary neurodegenerative disorder, associated predominantly with a lower motor neuron syndrome and eventually endocrine and sensory disturbances. In contrast to other motor neuron diseases such as amyotrophic lateral sclerosis (ALS), the impairment of cognition in SBMA is not well documented. We conducted a systematic cross-sectional neuropsychological study in order to investigate cognition in SBMA patients more thoroughly. We investigated 20 genetically proven SBMA patients compared to 20 age- and education-matched control subjects using a comprehensive neuropsychological test battery, measuring executive functioning, attention, memory and visuospatial abilities. The SBMA patients performed significantly worse than healthy controls in three sub-tests in the executive and attention domains. This low performance was in the working memory (digit span backward task), verbal fluency category (single letter fluency task) and memory storage capacity (digit span forward task). No disturbances were detected in other cognitive domains. The impairments were subclinical and not relevant to the patients' everyday functioning. In addition, no correlations were found between cognitive scores and the CAG repeat length. In conclusion, we found minor cognitive disturbances in patients with SBMA, which could indicate subtle frontal lobe dysfunction. These findings extend our neurobiological understanding of SBMA.
authors.affiliation: German Centre for Neurodegenerative Diseases (DZNE) , Site Rostock/Greifswald, Rostock.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kasper
authors.forename: Martin
authors.initials: M
authors.lastname: Wegrzyn
authors.forename: Ivo
authors.initials: I
authors.lastname: Marx
authors.forename: Christin
authors.initials: C
authors.lastname: Korp
authors.forename: Wolfram
authors.initials: W
authors.lastname: Kress
authors.forename: Reiner
authors.initials: R
authors.lastname: Benecke
authors.forename: Stefan J
authors.initials: SJ
authors.lastname: Teipel
authors.forename: Johannes
authors.initials: J
authors.lastname: Prudlo
mesh_terms: D000328:Adult; D000368:Aged; D000704:Analysis of Variance; D001288:Attention / Q000502:physiology; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000150:complications*; D016022:Case-Control Studies; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology*; D056344:Executive Function / Q000502:physiology; D006801:Humans; D008297:Male; D008568:Memory; D008875:Middle Aged; D009483:Neuropsychological Tests; D013028:Space Perception