PT  - JOURNAL ARTICLE
AU  - Peisker, Tomas
AU  - Musil, Libor
AU  - Hrebicek, Martin
AU  - Vlaskova, Hana
AU  - Cihelkova, Ilona
AU  - Bartos, Ales
TI  - Clinical spectrum in CADASIL family with a new mutation
DP  - 2013 Dec 12
TA  - Biomedical papers
PG  - 379--382
VI  - 157
IP  - 4
AID - 10.5507/bp.2013.055
IS  - 12138118
AB  - Background: Clinical presentation of CADASIL patients is variable due to the impact of other vascular risk factors and the type of a NOTCH3 mutation. This variability may impede the diagnosis of the disease.
Subjects and Methods: We report a comprehensive evaluation of several individuals in the CADASIL family whose member was identified to have the new mutation of NOTCH3 receptor on exon 6 (p. G296C). We performed genetic testing, clinical and neuropsychological examination, cerebral MRI, Doppler sonography of cerebral arteries, fundoscopic examination and fluorescent angiography in six family members to determine the corresponding clinical spectrum associated with the new mutation.
Results and Conclusion: The CADASIL mutation was detected in four individuals. Three of them were symptomatic, two having a history of stroke and one suffering from migraine. Although individuals had heterogeneous findings, the common feature included vascular changes that were present on cerebral and/or retinal arteries in all the mutation carriers even in one subject without clinical manifestation of the disease.