Mortality from hereditary cerebral haemorrhage with amyloidosis--Dutch type. The impact of sex, parental transmission and year of birth

Brain : a Journal of Neurology
M BornebroekR A Roos

Abstract

Hereditary cerebral haemorrhage with amyloidosis--Dutch type (HCHWA-D) is an autosomal dominant disorder, caused by a single base mutation in the amyloid beta precursor protein (beta PP) gene located on chromosome 21, resulting in recurrent haemorrhagic strokes and dementia. Though HCHWA-D is caused by a dominant mutation, the phenotypic expression varies widely, suggesting modulation of the phenotypic expression by additional factors. In this study we investigated the influence of sex, parental transmission and year of birth on mortality from HCHWA-D. Since the early sixties, clinical and genealogical data of patients with HCHWA-D have been collected. The standardized mortality rate (relative to the general population) was calculated to compare the mortality within the pedigrees with the mortality in the Dutch population. The influence of sex, parental transmission and year of birth on survival were studied using Cox's proportional hazard model. By December 1, 1995, a total of 187 cases were identified belonging to four large families. Mortality rate in affected individuals was fourfold increased compared with the Dutch population (relative mortality 4.0; 95% confidence interval 3.4-4.7) and higher in females than in males (re...Continue Reading

Citations

Mar 8, 2012·European Journal of Human Genetics : EJHG·Anne-Sophie JannotStanislas Lyonnet
Mar 28, 2013·European Journal of Human Genetics : EJHG·Miao HanShili Lin
Aug 10, 2000·Neuropathology : Official Journal of the Japanese Society of Neuropathology·M Yamada
Jan 26, 2016·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Sari AtulaSari Kiuru-Enari
Oct 19, 1999·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·M BornebroekR A Roos
Oct 11, 2005·Journal of the Neurological Sciences·Peter K PanegyresPeter C Blumbergs
Oct 14, 2014·Journal of the Neurological Sciences·Serena NannucciLeonardo Pantoni
Oct 2, 2007·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Steven M Greenberg

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