[Clinical characteristics of hereditary cerebrovascular disease in a large family from Colombia].
BACKGROUND
The cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations of the Notch3 gene in the chromosome 19p13.1. and is characterized by small-vessel disease of the cerebral. The clinical feature consists of migraine, recurrent strokes, mood changes and dementia.


OBJECTIVE
To describe the clinical phenotype of a Colombian family with hereditary cerebrovascular disease.


METHODS
We performed one pedigree with 268 individuals, neurologic examination to 57 members and magnetic resonance imaging (MRI) to 25 of them.


RESULTS
Clinical analysis strongly support the diagnosis of CADASIL because 12 individuals had suffered recurrent stroke, five of them later developed subcortical dementia. Two patients developed dementia without preceding stroke. All affected individuals by stroke or dementia whom were tested with MRI had white matter hyperintensities and subcortical infarcts (nine cases). Others seven individuals have MRI signal abnormalities like CADASIL, four of them are asymptomatic, one had suffered ischemic transient attacks and two had suffered migraine. Other 22 individuals had only migraine. We outstand the high frequency of MRI signal abnormalities in corpus callosum that we found in five individuals with stroke or dementia, the patient with ischemic transient attack and one asymptomatic patient, either the presence of hearing loss in seven individuals with stroke or dementia.


CONCLUSIONS
We describe one large family with hereditary cerebrovascular disease characterized by recurrent strokes, subcortical dementia, hearing loss, migraine, and MRI signal abnormalities typed leukoencephalopathy, subcortical infarcts and alterations in corpus callosum. Clinical analysis strongly support the diagnosis of CADASIL.
Grupo de Neurociencias de Antioquia, Facultad de Medicina, Universidad de Antioquia, AA 5923, Medellín, Colombia. flopera@epm.net.co
F
F
Lopera
J
J
Arboleda
S
S
Moreno
N
N
Almeida
M
M
Cuartas
M
M
Arcos-Burgos
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D003105:Colombia; D003337:Corpus Callosum / Q000473:pathology; D003704:Dementia / Q000175:diagnosis; D015161:Dementia, Multi-Infarct / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006311:Hearing Disorders / Q000175:diagnosis; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000175:diagnosis; D010375:Pedigree; D012008:Recurrence