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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.
AuthorsI-Chieh Hsieh, Ta-Shen Kuan, Pei-Chun Hsieh, Shu-Min Chen, Wei-Jang Yen, Wen-Chen Chang, I-Ling Lin, Yu-Ching Lin
JournalAmerican journal of Alzheimer's disease and other dementias (Am J Alzheimers Dis Other Demen) Vol. 29 Issue 2 Pg. 133-7 (Mar 2014) ISSN: 1938-2731 [Electronic] United States
PMID24277909 (Publication Type: Case Reports, Journal Article)
Chemical References
  • NOTCH3 protein, human
  • Receptor, Notch3
  • Receptors, Notch
Topics
  • Brain Infarction (complications, diagnosis)
  • CADASIL (complications, diagnosis, genetics)
  • Cognition (physiology)
  • Cognition Disorders (diagnosis, etiology, genetics)
  • Diagnosis, Differential
  • Early Diagnosis
  • Female
  • Humans
  • Magnetic Resonance Imaging (methods)
  • Middle Aged
  • Mutation (genetics)
  • Receptor, Notch3
  • Receptors, Notch (genetics)
  • Stroke (complications)
  • Surveys and Questionnaires

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