What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the <i>NOTCH3</i> gene

Dorota Dziewulska; Dorota Sulejczak; Michalina Wężyk

doi:10.5114/fn.2017.72387

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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4/2017
vol. 55

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abstract:

Original paper

What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene

Dorota Dziewulska

,

Dorota Sulejczak

,

Michalina Wężyk

Folia Neuropathol 2017; 55 (4): 295-300

DOI: https://doi.org/10.5114/fn.2017.72387

Online publish date: 2017/12/29

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AMA

Dziewulska D, Sulejczak D, Wężyk M. What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene. Folia Neuropathologica. 2017;55(4):295-300. doi:10.5114/fn.2017.72387.

APA

Dziewulska, D., Sulejczak, D.,  & Wężyk, M. (2017). What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene. Folia Neuropathologica, 55(4), 295-300. https://doi.org/10.5114/fn.2017.72387

Chicago

Dziewulska, Dorota, Dorota Sulejczak,  and Michalina Wężyk. 2017. "What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene". Folia Neuropathologica 55 (4): 295-300. doi:10.5114/fn.2017.72387.

Harvard

Dziewulska, D., Sulejczak, D.,  and Wężyk, M. (2017). What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene. Folia Neuropathologica, 55(4), pp.295-300. https://doi.org/10.5114/fn.2017.72387

MLA

Dziewulska, Dorota et al. "What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene." Folia Neuropathologica, vol. 55, no. 4, 2017, pp. 295-300. doi:10.5114/fn.2017.72387.

Vancouver

Dziewulska D, Sulejczak D, Wężyk M. What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene. Folia Neuropathologica. 2017;55(4):295-300. doi:10.5114/fn.2017.72387.

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We report patients from a Polish family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) who possess a novel heterozygous R110C mutation in exon 3 of the NOTCH3 gene leading to stereotypical cysteine loss. The proband had only seizure attacks and her magnetic resonance imaging (MRI) showed very numerous hyperintense foci in the cerebral white matter in a location characteristic of CADASIL. Distinctive ultrastructural assessment of vessels from skin-muscle biopsy revealed only mild degenerative changes but relatively numerous homogeneous deposits of granular osmiophilic material (GOM). In the other symptomatic family members with the same mutation ischaemic strokes were present but not epilepsy. In the proband’s affected brother at a similar age, the brain MRI was normal but vessels showed pronounced degenerative changes and irregular GOM deposits. The present report not only extends the list of known pathogenic mutations responsible for CADASIL but also emphasizes clinical and morphologic variability among family members with the same NOTCH3 mutation, suggesting that probably additional factors, not only mutations, may influence the disease phenotype.

keywords:

What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene

Dorota Dziewulska , Dorota Sulejczak , Michalina Wężyk

CADASIL, GOM, microangiopathy, NOTCH3, seizures

Dorota Dziewulska

,

Dorota Sulejczak

,

Michalina Wężyk