Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation
Dementia and Neurocognitive Disorders
;
: 15-19, 2016.
Article
in English
| WPRIM
| ID: wpr-116051
ABSTRACT
BACKGROUND AND PURPOSE:
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most-common single gene disorder of cerebral small vessel disease. There is no definite evidence of genotype-phenotype correlation in CADASIL. However, recent studies have shown the unique phenotypic feature of NOTCH3 R544C mutation.METHODS:
We investigated the phenotypic spectrum of NOTCH3 R544C mutation in 73 CADASIL patients in Jeju between April 2012 and January 2014.RESULTS:
Of the 73 subjects from 60 unrelated families included in this study, 40 (55%) were men. The mean age of the subjects was 62.2±12.2 (range 34-86 years). Cerebral infarction was the most frequent manifestation (37%), followed by cognitive impairment (32%), headache (17%), psychiatric symptom (16%), intracerebral hemorrhage (12%), transient ischemic attack (7%), and seizure (1%). The mean age of the subjects with ischemic or hemorrhagic episodes was 64.9±10.9 (range 41-86 years). A diagnosis of dementia was made in 12 subjects (16%). The mean age of the subjects with dementia was 75.6±6.5 (range 62-86 years). About 3% of subjects were unable to walk without assistance at assessment. Only one subject had developed chronic headache before the 40s.CONCLUSIONS:
Our data support the hypothesis that CADASIL patients with R544C mutation in Jeju have relatively late onset disease.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Seizures
/
Cerebral Hemorrhage
/
Cerebral Infarction
/
Ischemic Attack, Transient
/
Headache Disorders
/
Dementia
/
CADASIL
/
Diagnosis
/
Leukoencephalopathies
Type of study:
Diagnostic study
Limits:
Humans
/
Male
Language:
English
Journal:
Dementia and Neurocognitive Disorders
Year:
2016
Type:
Article
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