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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

References

1Adams, RD, Fisher, CM, Hakim, S, Ojemann, RG, Sweet, WH.Symptomatic occult hydrocephalus with “normal” cerebrospinal-fluid pressure a treatable syndrome. N Engl J Med. 1965;273:117–26.Google Scholar
2Hakim, S, Adams, RD.The special clinical problem of symptomatic hydrocephalus with normal cerebrospinal fluid pressure observations on cerebrospinal fluid hydrodynamics. J Neurol Sci. 1965;2(4):307–27.CrossRefGoogle ScholarPubMed
3Vanneste, J, Augustijn, P, Davies, GA, Dirven, C, Tan, WF.Normal-pressure hydrocephalus. Is cisternography still useful in selecting patients for a shunt? Arch Neurol. 1992;49(4):366–70.Google Scholar
4Earnest, MP, Fahn, S, Karp, JH, Rowland, LP.Normal pressure hydrocephalus and hypertensive cerebrovascular disease. Arch Neurol. 1974;31(4):262–6.CrossRefGoogle ScholarPubMed
5Hebb, AO, Cusimano, MD.Idiopathic normal pressure hydrocephalus: a systematic review of diagnosis and outcome. Neurosurgery. 2001;49(5):1166–84; discussion 1184-6.Google ScholarPubMed
6Koto, A, Rosenberg, G, Zingesser, LH, Horoupian, D, Katzman, R.Syndrome of normal pressure hydrocephalus: possible relation to hypertensive and arteriosclerotic vasculopathy. J Neurol Neurosurg Psychiatry. 1977;40(1):73–9.CrossRefGoogle ScholarPubMed
7Casmiro, M, D’Alessandro, R, Cacciatore, FM, Daidone, R, Calbucci, F, Lugaresi, E.Risk factors for the syndrome of ventricular enlargement with gait apraxia (idiopathic normal pressure hydrocephalus): a case-control study. J Neurol Neurosurg Psychiatry. 1989;52(7):847–52.Google Scholar
8Chalmers, RM, Andreae, L, Wood, NW, Durai Raj, RV, Casey, AT.Familial hydrocephalus. J Neurol Neurosurg Psychiatry. 1999;67(3):410–1.Google Scholar
9Christensen, PB.Normal pressure hydrocephalus in myotonic dystrophy. Eur Neurol. 1988;28(5):285–7.Google Scholar
10Katsuragi, S, Teraoka, K, Ikegami, K, et al.Late onset X-linked hydrocephalus with normal cerebrospinal fluid pressure. Psychiatry Clin Neurosci. 2000;54(4):487–92.CrossRefGoogle ScholarPubMed
11Portenoy, RK, Berger, A, Gross, E.Familial occurrence of idiopathic normal-pressure hydrocephalus. Arch Neurol. 1984;41(3):335–7.Google Scholar
12Zhang, J, Williams, MA, Rigamonti, D.Heritable essential tremoridiopathic normal pressure hydrocephalus (ETINPH). Am J Med Genet A. 2008;146A(4):433–9.Google Scholar
13Corder, EH, Saunders, AM, Strittmatter, WJ, et al.Gene dose of apolipoprotein E type 4 allele and the risk of alzheimer’s disease in late onset families. Science. 1993;261(5123):921–3.CrossRefGoogle ScholarPubMed
14Goodglass, H, Kaplan, E.Boston diagnostic aphasia examination (BDAE). Philadelphia: Lea and Febiger; 1983.Google Scholar
15Gallassi, R, Morreale, A, Montagna, P, Sacquegna, T, Di Sarro, R, Lugaresi, E.Binswanger’s disease and normal-pressure hydrocephalus. clinical and neuropsychological comparison. Arch Neurol. 1991 Nov;48(11):1156–9.Google Scholar
16Darvesh, S, Leach, L, Black, SE, Kaplan, E, Freedman, M.The behavioural neurology assessment. Can J Neurol Sci. 2005;32(2):167–77.Google Scholar
17Saunders, AM, Strittmatter, WJ, Schmechel, D, et al.Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic alzheimer’s disease. Neurology. 1993;43(8):1467–72.Google Scholar
18Nacmias, B, Tedde, A, Guarnieri, BM, et al.Analysis of apolipoprotein E, alpha1-antichymotrypsin and presenilin-1 genes polymorphisms in dementia caused by normal pressure hydrocephalus in man. Neurosci Lett. 1997;229(3):177–80.CrossRefGoogle ScholarPubMed
19Li, X, Miyajima, M, Mineki, R, Taka, H, Murayama, K, Arai, H.Analysis of potential diagnostic biomarkers in cerebrospinal fluid of idiopathic normal pressure hydrocephalus by proteomics. Acta Neurochir (Wien). 2006;148(8):859–64; discussion 864.CrossRefGoogle ScholarPubMed
20Messmer-Joudrier, S, Sagot, Y, Mattenberger, L, James, RW, Kato, AC.Injury-induced synthesis and release of apolipoprotein E and clusterin from rat neural cells. Eur J Neurosci. 1996;8(12):2652–61.CrossRefGoogle ScholarPubMed
21Poirier, J.Apolipoprotein E in animal models of CNS injury and in Alzheimer’s disease. Trends Neurosci. 1994;17(12):525–30.Google Scholar
22Arai, H, Higuchi, S, Sasaki, H.Apolipoprotein E genotyping and cerebrospinal fluid tau protein: Implications for the clinical diagnosis of Alzheimer’s disease. Gerontology. 1997;43 Suppl 1:2–10.CrossRefGoogle ScholarPubMed
23Grundke-Iqbal, I, Iqbal, K, Quinlan, M, Tung, YC, Zaidi, MS, Wisniewski, HM.Microtubule-associated protein tau. A component of Alzheimer paired helical filaments. J Biol Chem. 1986;261(13):6084–9.Google Scholar
24Grundke-Iqbal, I, Iqbal, K, Tung, YC, Wang, GP, Wisniewski, HM.Alzheimer paired helical filaments: cross-reacting polypeptide/s normally present in brain. Acta Neuropathol. 1985;66(1):52–61.Google Scholar