A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

Aleksandra M. Pavlovic; V. Dobricic; R. Semnic; V. Lackovic; I. Novakovic; M. Bajcetic; N. Sternic

doi:10.1007/s13760-012-0174-2

A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

Aleksandra M. Pavlovic, V. Dobricic, R. Semnic, V. Lackovic, I. Novakovic, M. Bajcetic, N. Sternic

Institut für Neurogenetik

2 Zitate (Scopus)

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing.

Originalsprache	Englisch
Zeitschrift	Acta Neurologica Belgica
Jahrgang	113
Ausgabenummer	3
Seiten (von - bis)	299-302
Seitenumfang	4
ISSN	0300-9009
DOIs	https://doi.org/10.1007/s13760-012-0174-2
Publikationsstatus	Veröffentlicht - 09.2013

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This work has been supported by the Ministry of Science and Technological Development of Serbia (Scientific Project No. 175022, 175091 and 41002). The authors would like to thank Dr Christen D Barras from the Department of Radiology, Royal Melbourne Hospital, Melbourne, Australia, and Gordana Tomic, PhD from the Clinic for Neurology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia for their valuable help with the manuscript.

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10.1007/s13760-012-0174-2

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title = "A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family",

abstract = "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing.",

author = "Pavlovic, \{Aleksandra M.\} and V. Dobricic and R. Semnic and V. Lackovic and I. Novakovic and M. Bajcetic and N. Sternic",

note = "Funding Information: This work has been supported by the Ministry of Science and Technological Development of Serbia (Scientific Project No. 175022, 175091 and 41002). The authors would like to thank Dr Christen D Barras from the Department of Radiology, Royal Melbourne Hospital, Melbourne, Australia, and Gordana Tomic, PhD from the Clinic for Neurology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia for their valuable help with the manuscript. ",

year = "2013",

month = sep,

doi = "10.1007/s13760-012-0174-2",

language = "English",

volume = "113",

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T1 - A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

AU - Pavlovic, Aleksandra M.

AU - Dobricic, V.

AU - Semnic, R.

AU - Lackovic, V.

AU - Novakovic, I.

AU - Bajcetic, M.

AU - Sternic, N.

N1 - Funding Information: This work has been supported by the Ministry of Science and Technological Development of Serbia (Scientific Project No. 175022, 175091 and 41002). The authors would like to thank Dr Christen D Barras from the Department of Radiology, Royal Melbourne Hospital, Melbourne, Australia, and Gordana Tomic, PhD from the Clinic for Neurology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia for their valuable help with the manuscript.

PY - 2013/9

Y1 - 2013/9

N2 - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing.

AB - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing.

UR - https://www.scopus.com/pages/publications/84883393935

U2 - 10.1007/s13760-012-0174-2

DO - 10.1007/s13760-012-0174-2

M3 - Journal articles

C2 - 23319290

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VL - 113

SP - 299

EP - 302

JO - Acta Neurologica Belgica

JF - Acta Neurologica Belgica

IS - 3

ER -

A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

Abstract

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