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Neuronal Intranuclear Inclusion Disease Presenting as Juvenile Parkinsonism

Published online by Cambridge University Press:  02 December 2014

Katie M. Wiltshire ,
Christopher Dunham ,
Stuart Reid ,
Roland N. Auer  and
Oksana Suchowersky
Katie M. Wiltshire
Affiliation:
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta
Christopher Dunham
Affiliation:
Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Alberta
Stuart Reid
Affiliation:
Department of Internal Medicine, Queen's University, Kingston, Ontario, Canada
Roland N. Auer
Affiliation:
Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Alberta
Oksana Suchowersky*
Affiliation:
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta Department of Medical Genetics, University of Calgary, Calgary, Alberta
*
University of Calgary, 3350 Hospital Drive NW, Calgary, Alberta, T2N 4N1, Canada.
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Abstract

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Background:

Diagnostic considerations for juvenile onset Parkinsonism (onset at <21 years of age) include juvenile Huntington disease, Wilson disease, dentatorubral-pallidoluysian atrophy (DRPLA), storage diseases, and mitochondrial cytopathies. Neuronal Intranuclear Inclusion Disease (NIID) must also be considered.

Case Report:

We present a case of juvenile onset NIID with a predominantly Parkinsonian presentation, followed later by corticospinal, cerebellar, and lower motor neuron symptoms.

Conclusion:

Diagnosis of NIID can be made antemortem through rectal biopsy, however it was missed in this case. Rectal biopsy should be performed in all suspected cases, reviewed by an experienced neuropathologist and repeated if the suspicion for NIID is high. Pathologically, SUMO-1 immunohistochemistry appears to reliably label the neuronal inclusions and abnormal SUMOylation may play a part in the pathogenesis.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 37 , Issue 2 , March 2010 , pp. 213 - 218
Copyright
Copyright © The Canadian Journal of Neurological 2010

References

1. Paviour, DC, Surtees, RA, Lees, AJ. Diagnostic considerations in juvenile parkinsonism. Mov Disord. 2004 Feb;19(2):123–35.Google Scholar
2. Mano, T, Takizawa, S, Mohri, I, Okinaga, T, Shimono, K, Imai, K, et al. Neuronal intranuclear hyaline inclusion disease with rapidly progressive neurological symptoms. J Child Neurol. 2007 Jan;22(1):60–6.CrossRefGoogle ScholarPubMed
3. Soffer, D. Neuronal intranuclear hyaline inclusion disease presenting as Friedreich’s ataxia. Acta Neuropathol. 1985;65(3-4):322–9.CrossRefGoogle ScholarPubMed
4. Sone, J, Hishikawa, N, Koike, H, Hattori, N, Hirayama, M, Nagamatsu, M, et al. Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy. Neurology. 2005 Nov 22;65(10):1538–43.Google Scholar
5. Takahashi-Fujigasaki, J. Neuronal intranuclear hyaline inclusion disease. Neuropathology. 2003 Dec;23(4):351–9.CrossRefGoogle ScholarPubMed
6. Kulikova-Schupak, R, Knupp, KG, Pascual, JM, Chin, SS, Kairam, R, Patterson, MC. Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease. J Child Neurol. 2004 Jan;19(1):59–62.CrossRefGoogle ScholarPubMed
7. O’Sullivan, JD, Hanagasi, HA, Daniel, SE, Tidswell, P, Davies, SW, Lees, AJ. Neuronal intranuclear inclusion disease and juvenile parkinsonism. Mov Disord. 2000 Sep;15(5):990–5.Google Scholar
8. Garen, PD, Powers, JM, Young, GF, Lee, V. Neuronal intranuclear hyaline inclusion disease in a nine year old. Acta Neuropathol. 1986;70(3-4):327–32.CrossRefGoogle Scholar
9. Goutieres, F, Mikol, J, Aicardi, J. Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. Ann Neurol. 1990 Jan;27(1):103–6.CrossRefGoogle Scholar
10. Funata, N, Maeda, Y, Koike, M, Yano, Y, Kaseda, M, Muro, T, et al. Neuronal intranuclear hyaline inclusion disease: report of a case and review of the literature. Clin Neuropathol. 1990 Mar-Apr;9(2):89–96.Google Scholar
11. Parker, JC Jr, Dyer, ML, Paulsen, WA. Neuronal intranuclear hyaline inclusion disease associated with premature coronary atherosclerosis. J Clin Neuroophthalmol. 1987 Dec;7(4):244–9.Google ScholarPubMed
12. Paviour, DC, Revesz, T, Holton, JL, Evans, A, Olsson, JE, Lees, AJ. Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies. Mov Disord. 2005 Oct;20(10):1345–9.Google Scholar
13. Parker, JC Jr, Dyer, ML, Paulsen, WA. Neuronal intranuclear hyaline inclusion disease associated with premature coronary atherosclerosis. J Clin Neuroophthalmol. 1987 Dec;7(4):244–9.Google Scholar
14. McFadden, K, Hamilton, RL, Insalaco, SJ, Lavine, L, Al-Mateen, M, Wang, G, et al. Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. J Neuropathol Exp Neurol. 2005 Jun;64(6):545–52.Google Scholar
15. Haltia, M, Somer, H, Palo, J, Johnson, WG. Neuronal intranuclear inclusion disease in identical twins. Ann Neurol. 1984 Apr;15(4): 316–21.Google Scholar
16. Kimber, TE, Blumbergs, PC, Rice, JP, Hallpike, JF, Edis, R, Thompson, PD, et al. Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. J Neurol Sci. 1998 Sep 18;160(1): 33–40.CrossRefGoogle ScholarPubMed
17. Barnett, JL, McDonnell, WM, Appelman, HD, Dobbins, WO. Familial visceral neuropathy with neuronal intranuclear inclusions: diagnosis by rectal biopsy. Gastroenterology. 1992 Feb;102(2): 684–91.Google Scholar
18. Zannolli, R, Gilman, S, Rossi, S, Volpi, N, Bernini, A, Galluzzi, P, et al. Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. Arch Neurol. 2002 Aug;59(8):1319–26.CrossRefGoogle ScholarPubMed
19. Klockgether, T, Wullner, U, Spauschus, A, Evert, B. The molecular biology of the autosomal-dominant cerebellar ataxias. Mov Disord. 2000 Jul;15(4):604–12.3.0.CO;2-K>CrossRefGoogle ScholarPubMed
20. Maat-Schieman, M, Roos, R, Losekoot, M, Dorsman, J, Welling-Graafland, C, Hegeman-Kleinn, I, et al. Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington’s disease. Brain Pathol. 2007 Jan;17(1):31–7.CrossRefGoogle ScholarPubMed
21. Marx, J. Cell biology. SUMO wrestles its way to prominence in the cell. Science. 2005 Feb 11;307(5711):836–9.CrossRefGoogle ScholarPubMed
22. Takahashi-Fujigasaki, J, Arai, K, Funata, N, Fujigasaki, H. SUMOylation substrates in neuronal intranuclear inclusion disease. Neuropathol Appl Neurobiol. 2006 Feb;32(1):92–100.CrossRefGoogle ScholarPubMed
23. Malandrini, A, Fabrizi, GM, Cavallaro, T, Zazzi, M, Parrotta, E, Romano, L, et al. Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. Acta Neuropathol. 1996;91(2): 215–8.Google Scholar