The Neuropsychology of Kufʹs Disease: A case of atypical early onset dementia

Adult Neuronal CeroidLipofuscinosis (Adult NCL), also known as Kufʹs Disease, is a rare progressive encephalopathic disease that results in dementia. This report describes the presentation, diagnosis, neuroanatomy, and management of Adult NCL. A neuropsychological case study of Adult NCL is presented, emphasizing early onset of psychiatric symptoms, motor involvement, and severe diffuse cognitive impairment. The patientʹs neuropsychological course is documented over a 2-year period, with findings interpreted within the context of current models of cortical and subcortical dementia. The biopsychosocial impact of misdiagnosis and pharmaceutical management are discussed.