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01-08-2010 | Original Communication

Clinical and genetic features in a family with CADASIL and high lipoprotein (a) values

Authors: Maolian Gong, Franz Rueschendorf, Peter Marx, Herbert Schulz, Hans-Georg Kraft, Norbert Huebner, Hans-Christian Koennecke

Published in: Journal of Neurology | Issue 8/2010

Abstract

We present a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and elevated lipoprotein(a) [Lp(a)] levels. In addition to neurological examinations, ultrasound of extra- and intracranial arteries, laboratory tests, and cerebral magnetic resonance imaging (MRI), a whole genome screening with mutation analyses was performed. Rather untypical for CADASIL, stenoses of large intracranial arteries were detected in the index patient. All affected subjects lacked a history of migraine, mood disturbances, and cognitive decline despite extensive white matter lesions in two individuals. Furthermore, evidence of early cerebral microangiopathy was demonstrated in three children (age 9, 11 and 13). We were able to explain the mechanism of elevated Lp(a) on the basis of the kringle IV type 2 repetition size. A mutation S118C located in exon 4 of Notch3 was responsible for CADASIL. Elevated Lp(a) might have contributed to the cerebrovascular phenotype in this family.

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Title: Clinical and genetic features in a family with CADASIL and high lipoprotein (a) values
Authors: Maolian Gong
Franz Rueschendorf
Peter Marx
Herbert Schulz
Hans-Georg Kraft
Norbert Huebner
Hans-Christian Koennecke
Publication date: 01-08-2010
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 8/2010
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-010-5496-5

At a glance: The STEP trials

Springer Medicine

Clinical and genetic features in a family with CADASIL and high lipoprotein (a) values

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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