[Monitoring cognitive characteristics in a population with hereditary cerebrovascular disease (CADASIL) in Colombia].
BACKGROUND
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease that affects small vessels and presents with vascular episodes, neuropsychiatric disorders, migraine and cognitive impairment. The cognitive disorder varies according to the time elapsed since onset. It is a condition with a subcortical origin related to executive dysfunction, slowing, attention-related disorders and memory disorders.


OBJECTIVE
To define the cognitive characteristics in two neuropsychological evaluations of carriers of Notch3 gene mutations as compared to non-carriers belonging to Colombian families with CADASIL.


METHODS
The study followed a longitudinal, retrospective design with 140 participants, including both carriers and non-carriers of the mutation. Cognitive performance was analysed by comparing the first and the last neuropsychological evaluation carried out on each subject at a four-year interval.


RESULTS
There were statistically significant differences (p < 0.05) between the two groups in the last evaluation, but only in some tests. Carriers and non-carriers did not display any significant changes between the first and the last evaluation.


CONCLUSIONS
No differences were found between both groups in the two evaluations. Cognitive impairment is not observed with the passage of time in carriers, probably owing to the fact that most of them were young, asymptomatic subjects. We believe that four years' follow-up is not enough time to observe a significant progression in the alterations affecting the cognitive functions in carriers of mutations in the Notch3 gene, which causes CADASIL. We also consider that more sensitive cognitive tools are needed to perform the neuropsychological evaluation.
Henao-Arboleda
E
E
Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Facultad de Medicina, Medellin, Colombia. elice@geo.net.co
Aguirre-Acevedo
D C
DC
Pacheco
C
C
Yamile-Bocanegra
O
O
Lopera
F
F
D000328:Adult; D046589:CADASIL / Q000453:epidemiology / Q000235:genetics / Q000523:psychology*; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology* / Q000523:psychology; D003105:Colombia / Q000453:epidemiology; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D017354:Point Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D012189:Retrospective Studies
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch