genetic hereditary small vessel diseases such as CADASIL (Cerebral Autosomal Dominant Arteriopathy with subcortical Infarcts and Leukoencephalopathy)
Conditions
Interventions
Group 1: Previous course of disease in patients with hereditary small vessel diseases (at the time of the interview
one-time survey)
Sponsors
LMU Klinikum, Institut für Schlaganfall- und Demenzforschung
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: • A diagnosis of hereditary cSVD -CADASIL: Diagnosis is made by molecular genetic testing of the NOTCH3 gene or by detection of granular osmiophilic material (GOM) in ultrastructural electron microscopy analysis of a skin biopsy. -CADASIL-like diseases: Diagnosis is made by molecular genetics, e.g. CADASIL type 2 with autosomal dominant inheritance of mutations in the HTRA1 gene or CADASIL like-diseases (mutations in the TREX1 gene) -CARASIL: Diagnosis is made by molecular genetic testing for biallelic mutations in the HTRA1 gene. • Ability to provide written informed consent or the presence of a legal guardian who can consent to inclusion in the study.
Exclusion criteria
Exclusion criteria: • Inclusion criteria are not met. • Absence of the ability to provide written informed consent or the lack of a legal guardian who can consent to inclusion in the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Aim: to establish a comprehensive registry by systematically collecting and analyzing data (e.g., mutation, clinical manifestation, medication) from adult patients with a hereditary form of cerebral small vessel diseases in a single in-person or telephone visit | — |
Secondary
| Measure | Time frame |
|---|---|
| (1) impact of hereditary SVD on patients' daily activities and independence, understanding the extent of functional impairment using the modified Rankin Scale (mRS), (2) cognitive function by employing the Montreal Cognitive Assessment (MoCA) test, (3) psychological impact of hereditary SVDs; this involves assessing mood and depression (utilizing tools like CES-D) (4) social and lifestyle factors that may independently or interactively influence the course of hereditary SVD | — |
Countries
Germany
Contacts
Public ContactAnna Kopczak
LMU Klinikum, Institut für Schlaganfall- und Demenzforschung
Outcome results
None listed