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Normal-Pressure Hydrocephalus: Is There a Genetic Predisposition?

Published online by Cambridge University Press:  02 December 2014

M. D. Cusimano ,
D. Rewilak ,
D. T. Stuss ,
J. C. Barrera-Martinez ,
F. Salehi  and
M. Freedman
M. D. Cusimano*
Affiliation:
Department of Surgery, Division of Neurosurgery, St. Michael's Hospital
D. Rewilak
Affiliation:
Department of Psychology, Baycrest Centre
D. T. Stuss
Affiliation:
Behavioural Neurology Program, Rotman Research Institute Departments of Surgery, Medicine and Psychology, University of Toronto, Toronto, Ontario, Canada
J. C. Barrera-Martinez
Affiliation:
Behavioural Neurology Program, Rotman Research Institute Departments of Surgery, Medicine and Psychology, University of Toronto, Toronto, Ontario, Canada
F. Salehi
Affiliation:
Department of Surgery, Division of Neurosurgery, St. Michael's Hospital
M. Freedman
Affiliation:
Behavioural Neurology Program, Rotman Research Institute Department of Medicine (Neurology), Mount Sinai Hospital, University Health Network Departments of Surgery, Medicine and Psychology, University of Toronto, Toronto, Ontario, Canada
*
Division of Neurosurgery, St. Michael's Hospital, 30 Bond Street, Toronto, Ontario, M5B 1W8, Canada
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Abstract

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Background:

Normal-pressure hydrocephalus (NPH) is characterized by gait disturbance, cognitive impairment, with or without urinary incontinence, enlarged ventricles with or without cerebral atrophy and normal cerebrospinal fluid pressure.

Methods:

We report two sisters with NPH who lived together their entire lives and whose natural history might provide insights into genetic and environmental mechanisms underlying this disorder. Both patients were in their early seventies, single, had similar daily habits and hypertension. No other family members had NPH.

Results:

They both underwent shunt placement and showed improvement documented by history and neuropsychological assessment. Both showed a delayed deterioration due to vasculopathy. Both patients were homozygous for the apolipoprotein E (ApoE) e3 allele on chromosome 19. No environmental factors that might have influenced the development of NPH were identified.

Conclusion:

Our report of two sisters with NPH may indicate the presence of genetic predisposition and further studies involving genetics and environmental factors are necessary to elucidate their role in the pathogenesis of NPH.

Type
Original Article
Information
Canadian Journal of Neurological Sciences , Volume 38 , Issue 2 , March 2011 , pp. 274 - 281
Copyright
Copyright © The Canadian Journal of Neurological 2011

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