NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

Neurology

Volumn 57, Issue 9, 2001, Pages 1714-1717

  Dichgans, Martin ^a   Herzog, Jürgen ^a   Gasser, Thomas ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR;

ADULT; AGED; AMINO ACID SEQUENCE; ARTERY DISEASE; ARTICLE; BRAIN INFARCTION; CLINICAL ARTICLE; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; LEUKOENCEPHALOPATHY; MALE; NEUROLOGIC DISEASE; NUCLEOTIDE REPEAT; PRIORITY JOURNAL;

EID: 0035856449     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.9.1714     Document Type: Article

References (9)

1. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
2. The phenotypic spectrum of CADASIL: Clinical findings in 102 cases
3. Clinical spectrum of CADASIL: A study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
4. Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL
5. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
6. The ectodomain of Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
7. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
8. Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains
9. Splice site mutation causing a 7 amino-acids Notch3 in-frame deletion in CADASIL