A novel mutation in the Notch3 gene in an italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Genetic and magnetic resonance spectroscopic findings

Archives of Neurology

Volumn 58, Issue 9, 2001, Pages 1418-1422

  Oliveri, Rosario L ^a,b   Muglia, Maria ^b   De Stefano, Nicole ^c   Mazzei, Rosalucia ^b   Labate, Angelo ^a   Conforti, Francesca L ^b   Patitucci, Allessandra ^b   Gabriele, Anna L ^b   Tagarelli, Giuseppe ^b   Magariello, Angela ^b   Zappia, Mario ^a   Gambardella, Antonio ^a,b   Federico, Antonio ^c   Quattrone, Aldo ^a,b,d  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

^d Policlinico Mater Domini   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN INFARCTION; CADASIL; CASE REPORT; CEREBROVASCULAR DISEASE; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SYNDROME DELINEATION;

EID: 0034843086     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.58.9.1418     Document Type: Article

References (13)

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3. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
4. Strong clustering and stereotyped nature of the Notch3 mutations in CADASIL patients
5. Chemical pathology of acute demyelinating lesions and its correlation with disability
6. Practical aspects of clinical applications of MRS in the brain
7. CADASIL: Hereditary disease of arteries causing brain infarcts and dementia
8. Diagnostic Notch3 sequence analysis in CADASIL: Three new mutations in Dutch patients
9. De novo mutation in the Notch3 gene causing CADASIL
10. Migraine with aura and white matter abnormalities: Notch3 mutation
11. Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASlL
12. Phenotypic variability of CADASIL and novel morphologic findings
13. CADASIL in a North American family: Clinical, pathologic, and radiologic findings