CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor
Küçük Resim Yok
Tarih
2002
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Blackwell Publishing Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Mutations in the Notch3 gene are the cause of the autosomal dominant disorder CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). The CADASIL is an adult-onset neurologic disorder (average age of onset is 45 years) characterized by recurrent strokes and dementia. Clinical features combined with cerebral magnetic resonance imaging (MRI), showing a diffuse leukoencephalopathy with subcortical infarcts in the basal ganglia and white matter, are highly contributive to the diagnosis. We present a Turkish family with CADASIL, in which 12 individuals in four generations were affected showing the typical clinical features of recurrent strokes. Mutation analysis of the Notch3 receptor gene identified the recently described R90C mutation in the N-terminal part of the gene in affected individuals. Interestingly, migraine without aura was found as an initial symptom of the disease in two young mutation carriers (22 and 25 years, respectively), who did not show any additional clinical features or any MRI abnormalities. This indicates that migraine without aura in the absence of MRI abnormalities may represent an early initial symptom of CADASIL, which is difficult to diagnose in the absence of molecular diagnosis. Therefore, the used molecular screening method for Notch3 mutations provides a rapid and accurate diagnostic tool in addition to the standard diagnostic procedures.
Açıklama
Anahtar Kelimeler
CADASIL Syndrome, Clinical Evaluation, Migraine, Mutation Screening, Notch3 Receptor, Families, Dementia, Gene, Migraine, Mri
Kaynak
European Journal Of Neurology
WoS Q Değeri
Q2
Scopus Q Değeri
Q1
Cilt
9
Sayı
1
