Clinical features of cognitive function in eight patients with hereditary cerebral small vessel disease

Abstract

Objective To discuss the cognitive function and the clinical characteristics of hereditary cerebral small vessel disease (cSVD). Methods Clinical data,imaging and neuropsychological score of 8 patients with monogenic hereditary cSVD were included from January 2015 to January 2018. The cognitive characteristics of the patients were analyzed during the first diagnosis,follow-up for 6-month and 12-month. Results Among 8 patients, 6 patients met the diagnostic criteria of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) and 2 patients met the diagnostic criteria of cerebral autosomal recessive arteriopathy with subcortical infarct and leukoencephalopathy (CARASIL). The main manifestations of CADASIL patients were acute cerebral infarction (2 cases), dizziness and headache (1 case) and cognitive impairment (3 cases), and CARASIL patients showed dizziness (1 case) or cognitive impairment (1 case) during the first diagnosis. Head MRI showed subcortical white matter lesions in different parts and degrees. Three patients had decreased activity of daily living and four patients had different degrees of neuropsychiatric and behavioral disorders, one case might have anxiety and mild depression. All patients had different degrees of neuropsychiatric and behavioral disorders at 6-month follow-up. Patients with CADASIL suffered from impairment of delayed recall, visuospatial and executive function, abstract ability, language, attention and computational ability, as well as neuropsychiatric behavior disorders such as irritability, emotional apathy, agitation and abnormal motor behavior. Patients with CARASIL suffered from impairment of executive function, orientation (time, place) and short term memory. In addition to irritability, apathy, agitation and abnormal motor behavior, there were delusions, depression and sleep disorders. Conclusions The progress and changes of cognitive function in patients with CARASIL and CADASIL have different characteristics, and there are differences among individuals.

Keywords

• Cerebral small vessel diseases; CADASIL; Cognition disorders; Neuropsychological tests