Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation
Dementia and Neurocognitive Disorders
; : 15-19, 2016.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-116051
Biblioteca responsável:
WPRO
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.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Convulsões
/
Hemorragia Cerebral
/
Infarto Cerebral
/
Ataque Isquêmico Transitório
/
Transtornos da Cefaleia
/
Demência
/
CADASIL
/
Diagnóstico
/
Leucoencefalopatias
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Dementia and Neurocognitive Disorders
Ano de publicação:
2016
Tipo de documento:
Artigo