CADASIL and A Family
OBJECTIVE: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a systemic vasculopathy that causes various clinical pictures as recurrent ischemic attacks, migrainous headache, pseudo bulbar palsy, epileptic seizures and dementia. Mutations of notc...
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2008-04-01
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| Series: | Türk Nöroloji Dergisi |
| Subjects: | |
| Online Access: | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-27136 |
| _version_ | 1797919433677602816 |
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| author | Figen Varlıbaş Zeynep Baştuğ Cihat Örken Mehmet Gencer Tuğba Arıcan Barış Hülya Tireli |
| author_facet | Figen Varlıbaş Zeynep Baştuğ Cihat Örken Mehmet Gencer Tuğba Arıcan Barış Hülya Tireli |
| author_sort | Figen Varlıbaş |
| collection | DOAJ |
| description | OBJECTIVE: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a systemic vasculopathy that causes various clinical pictures as recurrent ischemic attacks, migrainous headache, pseudo bulbar palsy, epileptic seizures and dementia. Mutations of notch3 gene on chromosome 19 are responsible for the disease.
METHODS: The aim of this study is to draw attention to the family history and neuroradiological investigations of a genetically diagnosed CADASIL case.
RESULTS: A forty-seven-years-old woman who presented with left hemiparesis was investigated for the cause of stroke as well as her family history. Her mother was reported to have chronic headache. Then inappropriate crying and laughing attacks, behavioral disturbances, urinary incontinency had contributed and she had died at the age of 51 following sudden loss of consciousness. Her father had had four stroke attacks after 45 and before he died at the age of 73 he was unresponsive for the last 10 years. First sibling, 58 years-old female had a history of three stroke attacks and reported forgetfulness. Second sibling, a female, suffered from headache and had died at the age of 37 succeeding two epileptic seizures. Third sibling, 53 years-old female was said to be living bedridden for the last 5 years. Fourth sibling was 51 years-old male and had had a stroke attack at the age of 38. Fifth sibling was 48 years-old female whose speech disorder started 10 years ago. Laughing and crying attacks, incontinency, childish behavior and forgetfulness were also added. Sixth sibling was our patient. Seventh sibling was 45 years-old, male and had no complaints.
First, fourth, sixth and seventh siblings were evaluated in systematic, neurological, neuropsychological and neuroradiological perspectives.
CONCLUSION: In addition to family history, hyperintensities in temporal polar region and external capsule on flair and T2-weighted MRI supported the diagnosis of CADASIL in our case. The diagnosis was confirmed by detecting R133C mutation in notch3 gene, 4th exon |
| first_indexed | 2024-04-10T13:46:25Z |
| format | Article |
| id | doaj.art-45a02dedad934947a143a57174d3f50d |
| institution | Directory Open Access Journal |
| issn | 1301-062X 1309-2545 |
| language | English |
| last_indexed | 2024-04-10T13:46:25Z |
| publishDate | 2008-04-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Nöroloji Dergisi |
| spelling | doaj.art-45a02dedad934947a143a57174d3f50d2023-02-15T16:10:58ZengGalenos YayineviTürk Nöroloji Dergisi1301-062X1309-25452008-04-0114297103CADASIL and A FamilyFigen Varlıbaş0Zeynep Baştuğ1Cihat Örken2Mehmet Gencer3Tuğba Arıcan Barış4Hülya Tireli5Neurology Clinic 2, Haydarpasa State Education And Research Hospital, İstanbul, TurkeyNeurology Clinic 2, Haydarpasa State Education And Research Hospital, İstanbul, TurkeyNeurology Clinic 2, Haydarpasa State Education And Research Hospital, İstanbul, TurkeyNeurology Clinic 2, Haydarpasa State Education And Research Hospital, İstanbul, TurkeyMolecular Genetic Department, Burc Genetical Diagnosis And Research Laboratory, İstanbul, TurkeyNeurology Clinic 2, Haydarpasa State Education And Research Hospital, İstanbul, TurkeyOBJECTIVE: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a systemic vasculopathy that causes various clinical pictures as recurrent ischemic attacks, migrainous headache, pseudo bulbar palsy, epileptic seizures and dementia. Mutations of notch3 gene on chromosome 19 are responsible for the disease. METHODS: The aim of this study is to draw attention to the family history and neuroradiological investigations of a genetically diagnosed CADASIL case. RESULTS: A forty-seven-years-old woman who presented with left hemiparesis was investigated for the cause of stroke as well as her family history. Her mother was reported to have chronic headache. Then inappropriate crying and laughing attacks, behavioral disturbances, urinary incontinency had contributed and she had died at the age of 51 following sudden loss of consciousness. Her father had had four stroke attacks after 45 and before he died at the age of 73 he was unresponsive for the last 10 years. First sibling, 58 years-old female had a history of three stroke attacks and reported forgetfulness. Second sibling, a female, suffered from headache and had died at the age of 37 succeeding two epileptic seizures. Third sibling, 53 years-old female was said to be living bedridden for the last 5 years. Fourth sibling was 51 years-old male and had had a stroke attack at the age of 38. Fifth sibling was 48 years-old female whose speech disorder started 10 years ago. Laughing and crying attacks, incontinency, childish behavior and forgetfulness were also added. Sixth sibling was our patient. Seventh sibling was 45 years-old, male and had no complaints. First, fourth, sixth and seventh siblings were evaluated in systematic, neurological, neuropsychological and neuroradiological perspectives. CONCLUSION: In addition to family history, hyperintensities in temporal polar region and external capsule on flair and T2-weighted MRI supported the diagnosis of CADASIL in our case. The diagnosis was confirmed by detecting R133C mutation in notch3 gene, 4th exonhttp://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-27136CADASILnotch3 geneR133C mutation |
| spellingShingle | Figen Varlıbaş Zeynep Baştuğ Cihat Örken Mehmet Gencer Tuğba Arıcan Barış Hülya Tireli CADASIL and A Family Türk Nöroloji Dergisi CADASIL notch3 gene R133C mutation |
| title | CADASIL and A Family |
| title_full | CADASIL and A Family |
| title_fullStr | CADASIL and A Family |
| title_full_unstemmed | CADASIL and A Family |
| title_short | CADASIL and A Family |
| title_sort | cadasil and a family |
| topic | CADASIL notch3 gene R133C mutation |
| url | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-27136 |
| work_keys_str_mv | AT figenvarlıbas cadasilandafamily AT zeynepbastug cadasilandafamily AT cihatorken cadasilandafamily AT mehmetgencer cadasilandafamily AT tugbaarıcanbarıs cadasilandafamily AT hulyatireli cadasilandafamily |