A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene

Journal of the Neurological Sciences

Volumn 193, Issue 1, 2001, Pages 43-47

  De Freitas, G R ^a   Miklossy, J ^a   Christen Zach S ^a   Reichhart, M ^a   Bogousslavsky, J ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

CADASIL; Cerebrovascular disorders; Diagnosis; Electron microscopy; Notch3 gene; Skin biopsy

Indexed keywords

AGED; ARTERY DISEASE; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; BRAIN INFARCTION; CASE REPORT; CEREBROVASCULAR DISEASE; DEMENTIA; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MUTATION; PRIORITY JOURNAL; SEIZURE; SKIN BIOPSY; STROKE; TRANSIENT ISCHEMIC ATTACK;

AGED; BIOPSY; BRAIN; CEREBRAL ARTERIES; DEMENTIA, MULTI-INFARCT; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MUSCLE, SMOOTH, VASCULAR; MUTATION; PROTO-ONCOGENE PROTEINS; RECEPTORS, CELL SURFACE; RECEPTORS, NOTCH; SKIN;

EID: 0035892540     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(01)00579-2     Document Type: Article

References (13)

1. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
2. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
3. Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
4. Characteristic morphologic manifestation of CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in skeletal muscle and skin
5. Notch 3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
6. The phenotypic spectrum of CADASIL: clinical findings in 102 cases
7. De novo mutation in the Notch3 gene causing CADASIL
8. CADASIL: skin biopsy allows diagnosis in early stages
9. Muscle and skin biopsies are a sensitive tool in the diagnosis of CADASIL
10. Phenotypic variability of CADASIL and novel morphologic findings
11. Clinical spectrum of CADASIL: a study of 7 families
12. Vasculopathic changes of CADASIL can be focal in skin biopsies
13. A Canadian CADASIL kindred: how sensitive is a skin biopsy?