Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: Use of skin biopsy electron microscopy study and direct genotypic screening

Journal of Neurology

Volumn 245, Issue 11, 1998, Pages 734-740

  Furby, Alain ^a   Vahedi, Katayoun ^b   Force, Maribel ^a   Larrouy, Sylvie ^c   Ruchoux, Marie Magdeleine ^d   Joutel, Anne ^b   Tournier Lasserve, Elisabeth ^b  

^a Service de Neurologie   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c INSTITUT NATIONAL D'ÉTUDES DÉMOGRAPHIQUES   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Chromosome 19p; Notch3 mutations; Vascular leukoencephalopathy; Vascular smooth muscle cell disease

Indexed keywords

DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN INFARCTION; CEREBROVASCULAR DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY;

ADULT; AGED; BIOPSY; CEREBRAL ARTERIAL DISEASES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HUMANS; LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE, SMOOTH, VASCULAR; PEDIGREE; SKIN;

EID: 0031695156     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150050277     Document Type: Article

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