title: Detection of early cognitive impairment using AD8 in a young patient with stroke with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome: a case report.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome is a hereditary disease resulting from NOTCH3 gene mutation. The clinical presentations include migraine, recurrent stroke, and cognitive impairment. The severity of cognitive impairment varies in different stages, and early recognition poses a challenge. A 47-year-old lady presented with chronic migraine and sudden onset of hemiparesis. Magnetic resonance imaging revealed compatible findings of CADASIL, which was confirmed by mutation analysis of NOTCH3 gene. Early cognitive impairment was detected by her score of 3 in Ascertain Dementia 8 (AD8) questionnaire and confirmed by detailed neuropsychological assessments. After 21 months of follow-up, deterioration in her cognition and ability to perform instrumental activities of daily living were significant with a follow-up AD8 score of 7. Ascertain Dementia 8 questionnaire is an easy and valid screening tool for early cognitive impairment in patients with CADASIL syndrome.
authors.affiliation: 1Department of Physical Medicine and Rehabilitation, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
authors.forename: I-Chieh
authors.initials: IC
authors.lastname: Hsieh
authors.forename: Ta-Shen
authors.initials: TS
authors.lastname: Kuan
authors.forename: Pei-Chun
authors.initials: PC
authors.lastname: Hsieh
authors.forename: Shu-Min
authors.initials: SM
authors.lastname: Chen
authors.forename: Wei-Jang
authors.initials: WJ
authors.lastname: Yen
authors.forename: Wen-Chen
authors.initials: WC
authors.lastname: Chang
authors.forename: I-Ling
authors.initials: IL
authors.lastname: Lin
authors.forename: Yu-Ching
authors.initials: YC
authors.lastname: Lin
mesh_terms: D020520:Brain Infarction / Q000150:complications / Q000175:diagnosis; D046589:CADASIL / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003071:Cognition / Q000502:physiology; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D020521:Stroke / Q000150:complications*; D011795:Surveys and Questionnaires
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch
keywords: AD8; CADASIL syndrome; cognitive impairment; young stroke