![]() In this study, we identified a mutation, 475C→T (R133C), in the NOTCH3 gene in a 5-generational Han Chinese family with CADASIL patients. Punctate long T1and long T2signals on bilateraltemporal lobes,bilateral basal gangliaand corona radiate CADASIL patient. Punctate long T1and T2 signals onright hemisphere ofcerebellum, bilateral temporallobes, bilateral basalganglia and coronaradiate, high-intensitysignals of FLAIRsequence CADASILpatient.ĭrowsinessaccompanied byparoxysmal hemicrania forover 10 years headache during thecourse of thedisease MMSEscore 29.Ībnormal punctate longT1 and T2signals on bilateralfrontal lobes, slightlyhigher signal intensityof lesions onFLAIR CADASIL patient.Ībnormal punctate long T1 and long T2 signal shown on bilateral frontal lobe CADASIL patient. Numbness in handsand feet nosymptoms ofineffective activityof the limbs,memory declineor headache. Punctate longT1 and longT2 signals onthe temporal lobes bilateral basal gangliaand corona radiateand high-intensitysignals of FLAIRsequence CADASIL patient. Unsteady gait for2 months, gettingworse for1 week numbnessin hands andfeet languageunclear ataxia lower extremityweakness. ![]() Long T1 andT2 signals shownon the whitematter around theventricles punctuatelong T1 andlong T2signals in the brainstem CADASIL patient. Ineffective activity ofright limbs accompaniedby verbal clumsinessfor over 20 years obvious memorydecline nodysphagia or dysuria. Gliosis in the lefttemporal lobe, foreheadand parietallobe massivecerebralinfarction The main clinical features of the proband and the other affected individuals in the family were summarized in Table 1. This 5-generational family included 6 affected individuals, 72 unaffected individuals, 5 mutation carriers who did not show symptoms and one large area cerebral infarction patient (ΙΙ:4), who was not a CADASIL patient and did not have the mutation. Urine routine test, blood glucose, blood lipids, liver and kidney functions, blood homocysteine levels, ECG and abdominal ultrasound results were all normal. The MRI examination results showed long T1 and long T2 signals on the white matter around the ventricles, and punctate long T1 and long T2 signals in the brainstem ( Figure 2). II:4 had a large area cerebral infarction but was not a CADASIL patient. Mutation carriers without evident clinical features are indicated by a circle with a vertical line in the middle (III:31, III:33, III:34, IV:30) or a square with a vertical line in the middle (IV:28). Normal individuals are shown as empty symbols. ![]() Squares and circles indicate males and females, respectively. Pedigree of a 5-generational Chinese Han family affected with CADASIL. Here, we report an R133C mutation on exon 4 of the NOTCH3 gene in members of a 5-generational Han Chinese family and describe the unusual clinical manifestations of the disease in this family. However, the full spectrum of genetic changes leading to this disease is yet to be known and, especially, very few reports are available on CADASIL in Asian populations. Ī large number of mutations in the 23 exons of the NOTCH3 gene have been reported to be associated with CADASIL, ,, ,. In addition to these common CNS symptoms and signs, some less frequent manifestations of the disease have also been reported, such as epilepsy, transient disturbances of consciousness, visual impairment, and hemorrhagic strokes, ,. Many CADASIL patients also show cognitive decline, dementia and psychiatric symptoms. About 85% of symptomatic CADASIL patients have ischemic attacks or stroke and 22–64% show migraine, which may begin early during childhood or adolescence but mostly during the third decade. The mean onset age is around 45 years old, ranging from 30 to 70. The main clinical feature of the disease is the disfunctioning of the central nervous system (CNS), characterized by recurrent ischemic attacks or strokes, migraine, cognitive impairment, dementia and psychiatric disturbances. To date, very few cases in Asian families have been reported, which however may not necessarily indicate that the disease is rare in Asia. ![]() This disorder has been found in many race-ethnicities, with most reported cases coming from European Caucasian families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease with mutations in the NOTCH3 gene.
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