CADASIL with clinical manifestations of baldness, lumbago and Parkinson's symptoms.
- Author:
Zhixia REN
1
;
Shuai CHEN
;
Yingying SHI
;
Yuanxing ZHANG
;
Wan WANG
;
Zuzhi CHEN
;
Mingrong XIA
;
Xiaohong SHI
;
Jiewen ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Alopecia; etiology; CADASIL; complications; diagnostic imaging; genetics; Humans; Low Back Pain; etiology; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Parkinsonian Disorders; etiology; Receptor, Notch3; genetics
- From: Chinese Journal of Medical Genetics 2017;34(6):821-825
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate a cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) case with clinical manifestations of baldness, lumbago and Parkinson's symptoms.
METHODSClinical and imaging data of the patient were analyzed. The patient and his family members were also subjected to genetic testing.
RESULTSThe symptoms of the patient included recurrent stroke, dementia, and mood disturbance, in addition with lumbago, baldness and Parkinson's symptoms but no migraine. Cranial MRI of the patient showed bilateral symmetric leukoencephalopathy and multiple small subcortical lacunar infarcts. A point mutation in exon 11 of the NOTCH3 gene (R558C) was discovered in the proband and four asymptomatic relatives.
CONCLUSIONCADASIL is characterized by recurrent subcortical ischemic stroke, dementia, pseudobulbar palsy, and mood disturbance. Baldness, lumbago and Parkinson's symptoms may also be seen in such patients.
