[Report of a patient with CADASIL having a novel missense mutation of the Notch 3 gene--association with alopecia and lumbar herniated disk].
We report a 52-year-old man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) presenting dementia, alopecia and lumbar herniated disk. He had an episode of stroke and migraine-like headache lasting for 5 minutes. A lot of members had cerebral infarction in this family. Brain magnetic resonance imaging demonstrated, on T2-weighted images, numerous hyperintense lesions suggestive of small infarcts in the basal ganglia and diffuse hyperintense lesions in the cerebral white matter. The clinical symptoms, the family history and the MRI findings suggested the diagnosis of CADASIL. However, the patient also showed alopecia and lumbar herniated disk, both are characteristic features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). The DNA analysis of the Notch 3 gene identified a novel missense mutation Cys174Phe in this patient. Our case report indicated the importance of the DNA analysis for the diagnosis of CADASIL.
Yamada
H
H
Division of Neurology, Department of Internal Medicine, Kawasaki Medical School.
Yasuda
T
T
Kotorii
S
S
Takahashi
K
K
Tabira
T
T
Sunada
Y
Y
D000505:Alopecia / Q000150:complications*; D001921:Brain / Q000473:pathology; D015161:Dementia, Multi-Infarct / Q000150:complications / Q000235:genetics*; D006801:Humans; D007405:Intervertebral Disc Displacement / Q000150:complications*; D008159:Lumbar Vertebrae; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011956:Receptors, Cell Surface
D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface