CADASIL
Conditions
Interventions
case series:Nil
Sponsors
Shanghai Ninth Hospital, Shanghai Jiao Tong University School of Medicine
Eligibility
Sex/Gender
All
Age
18 Years to 100 Years
Inclusion criteria
Inclusion criteria: To meet both the following clinical criteria (1) - (5) and Notch3 gene test criteria. 1. Clinical criteria: (1) Age of onset (clinical symptom (2) or white matter lesion) <= 55 years old; (2) At least 2 of the following clinical symptoms: a. Subcortical dementia, or pyramidal tract sign, or bulbar palsy; b. Stroke events with focal symptoms; c. Emotional disorder; d. Migraine. (3) Autosomal dominant inheritance; (4) White matter hyperintensity with temporal pole involvement on MRI or CT; (5) Exclusion of leukodystrophy (such as adrenoleukodystrophy, metachromatic leukodystrophy, etc.). 2. Notch3 gene test criteria: Pathogenic or possibly pathogenic mutations in exons 2-24 of Notch3 gene sequencing, according to the genetic variation interpretation guidelines issued by ACMG in 2015.
Exclusion criteria
Exclusion criteria: No finding of pathogenic or possibly pathogenic mutations in exons 2-24 of Notch3 gene sequencing, according to the genetic variation interpretation guidelines issued by ACMG in 2015.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| gene test; | — |
Secondary
| Measure | Time frame |
|---|---|
| cranial MRI;stroke events;cognitive function;blood test; | — |
Countries
China
Contacts
Public ContactJing-Jing Su
Shanghai Ninth Hospital, Shanghai Jiao Tong University School of Medicine
Outcome results
None listed