Cadasil - genetic and ultrastructural diagnosis: case report
ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder which affects the cerebral vasculature due to mutations in the NOTCH 3 gene. The diagnosis may be established through genetic testing for detection of these mutation...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Associação Neurologia Cognitiva e do Comportamento
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| Series: | Dementia & Neuropsychologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642015000400428&lng=en&tlng=en |
| _version_ | 1818051247456911360 |
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| author | Julio Cesar Vasconcelos da Silva Leila Chimelli Felipe Kenji Sudo Eliasz Engelhardt |
| author_facet | Julio Cesar Vasconcelos da Silva Leila Chimelli Felipe Kenji Sudo Eliasz Engelhardt |
| author_sort | Julio Cesar Vasconcelos da Silva |
| collection | DOAJ |
| description | ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder which affects the cerebral vasculature due to mutations in the NOTCH 3 gene. The diagnosis may be established through genetic testing for detection of these mutations and/or by skin biopsy. We report a case of the disorder in a female patient, who presented recurrent transient ischemic attacks that evolved to progressive subcortical dementia. Neuroimaging disclosed extensive leukoaraiosis and lacunar infarcts. The genetic analysis for NOTCH 3 was confirmatory. The ultrastructural examination of the skin biopsy sample, initially negative, confirmed the presence of characteristic changes (presence of granular osmiophilic material inclusions [GOM]), after the analysis of new sections of the same specimen. The present findings indicate that negative findings on ultrastructural examinations of biopsy should not exclude the diagnosis of the disease and that further analyses of the sample may be necessary to detect the presence of GOM. |
| first_indexed | 2024-12-10T11:06:20Z |
| format | Article |
| id | doaj.art-c078cc71e2ce4ffbbfcea4aebfa9e1d2 |
| institution | Directory Open Access Journal |
| issn | 1980-5764 |
| language | English |
| last_indexed | 2024-12-10T11:06:20Z |
| publisher | Associação Neurologia Cognitiva e do Comportamento |
| record_format | Article |
| series | Dementia & Neuropsychologia |
| spelling | doaj.art-c078cc71e2ce4ffbbfcea4aebfa9e1d22022-12-22T01:51:33ZengAssociação Neurologia Cognitiva e do ComportamentoDementia & Neuropsychologia1980-57649442843210.1590/1980-57642015DN94000428S1980-57642015000400428Cadasil - genetic and ultrastructural diagnosis: case reportJulio Cesar Vasconcelos da SilvaLeila ChimelliFelipe Kenji SudoEliasz EngelhardtABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder which affects the cerebral vasculature due to mutations in the NOTCH 3 gene. The diagnosis may be established through genetic testing for detection of these mutations and/or by skin biopsy. We report a case of the disorder in a female patient, who presented recurrent transient ischemic attacks that evolved to progressive subcortical dementia. Neuroimaging disclosed extensive leukoaraiosis and lacunar infarcts. The genetic analysis for NOTCH 3 was confirmatory. The ultrastructural examination of the skin biopsy sample, initially negative, confirmed the presence of characteristic changes (presence of granular osmiophilic material inclusions [GOM]), after the analysis of new sections of the same specimen. The present findings indicate that negative findings on ultrastructural examinations of biopsy should not exclude the diagnosis of the disease and that further analyses of the sample may be necessary to detect the presence of GOM.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642015000400428&lng=en&tlng=enCADASILskin biopsygranular osmiophilic materialNOTCH 3 |
| spellingShingle | Julio Cesar Vasconcelos da Silva Leila Chimelli Felipe Kenji Sudo Eliasz Engelhardt Cadasil - genetic and ultrastructural diagnosis: case report Dementia & Neuropsychologia CADASIL skin biopsy granular osmiophilic material NOTCH 3 |
| title | Cadasil - genetic and ultrastructural diagnosis: case report |
| title_full | Cadasil - genetic and ultrastructural diagnosis: case report |
| title_fullStr | Cadasil - genetic and ultrastructural diagnosis: case report |
| title_full_unstemmed | Cadasil - genetic and ultrastructural diagnosis: case report |
| title_short | Cadasil - genetic and ultrastructural diagnosis: case report |
| title_sort | cadasil genetic and ultrastructural diagnosis case report |
| topic | CADASIL skin biopsy granular osmiophilic material NOTCH 3 |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642015000400428&lng=en&tlng=en |
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