Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) associated with a Novel C82R Mutation in the NOTCH3 Gene.

[cadasil]

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL ) is a rare inherited cerebrovascular disease associated with mutations in the NOTCH 3 gene on chromosome 19 , and represents the most common hereditary stroke disorder . We describe a pedigree , which suffered the classical clinical CADASIL pattern of migraine headaches , recurrent subcortical infarcts , and subcortical dementia , associated with a previously undescribed missense mutation (c .[244 T >C ], p .[C 82 R ]) in NOTCH 3 . This new mutation extends the list of known pathogenic mutations responsible for CADASIL , which are associated with an odd number of cysteine residues within any of the epidermal growth factor -like repeats of Notch 3 receptor protein .

Diseases
Validation

Diseases presenting "leukoencephalopathy" symptom

adrenomyeloneuropathy

alexander disease

cadasil

canavan disease

epidermolysis bullosa simplex

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

krabbe disease

phenylketonuria

pyruvate dehydrogenase deficiency

sneddon syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated