Minor cognitive disturbances in X-linked spinal and bulbar muscular atrophy, Kennedy's disease

摘要: Spinal and bulbar muscular atrophy (SBMA), Kennedy's disease, is an adult-onset hereditary neurodegenerative disorder, associated predominantly with a lower motor neuron syndrome eventually endocrine sensory disturbances. In contrast to other diseases such as amyotrophic lateral sclerosis (ALS), the impairment of cognition in SBMA not well documented. We conducted systematic cross-sectional neuropsychological study order investigate patients more thoroughly. investigated 20 genetically proven compared age- education-matched control subjects using comprehensive test battery, measuring executive functioning, attention, memory visuospatial abilities. The performed significantly worse than healthy controls three sub-tests attention domains. This low performance was working (digit span backward task), verbal fluency category (single letter task) storage capacity forward task). No disturbances were detected cognitive impairments subclinical relevant patients' everyday functioning. addition, no correlations found between scores CAG repeat length. conclusion, we minor SBMA, which could indicate subtle frontal lobe dysfunction. These findings extend our neurobiological understanding SBMA.