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Neuroimaging and Neurophysiology Studies in Carriers of Cree Leukoencephalopathy

Published online by Cambridge University Press:  02 December 2014

R. J. Huntsman ,
E. G. Lemire ,
C. L. Voll ,
S. Wiebe  and
N. J. Lowry
R. J. Huntsman*
Affiliation:
Division of Pediatric Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
E. G. Lemire
Affiliation:
Division of Medical Genetics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
C. L. Voll
Affiliation:
Department of Pediatrics, Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
S. Wiebe
Affiliation:
Department of Medicine, Department of Medical Imaging, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
N. J. Lowry
Affiliation:
Division of Pediatric Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
*
Division of Pediatric Neurology, Department of Pediatrics, University of Saskatchewan, Royal University Hospital, 103 Hospital Drive, Saskatoon, Saskatchewan, S7N 0W8, Canada
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Abstract

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Information

Type
Brief Communications
Information
Canadian Journal of Neurological Sciences , Volume 38 , Issue 2 , March 2011 , pp. 347 - 348
Copyright
Copyright © The Canadian Journal of Neurological 2011

References

1Huntsman, RJ, Seshia, S, Lowry, N, Lemire, EG, Harder, SL.Peripheral neuropathy in a child with Cree Leukodystrophy. J Child Neurol. 2007;22:766–8.Google Scholar
2Fogli, A, Wong, K, Eymard-Pierre, A, et al.Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol. 2002;52:506–10.Google Scholar
3Alorainey, IA, Patenaude, YG, O’Gorman, AM, Black, DN, Meagher-Vilemure, K.Cree leukoencephalopathy: neuroimaging finding. Radiology. 1999;213:400–6.CrossRefGoogle Scholar
4Houlden, H, Groves, M, Miedzybrodzka, Z, et al.New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. J Neurol Neurosurg Psychiatry. 2007;78: 1267–70.Google Scholar
5Manfredi, G, Silvestri, G, Serividei, S, et al.Manifesting heterozygotes in McArdle’s disease: clinical, morphological and biochemical studies in a family. J Neurol Sci. 1993;115(1):91–4.Google Scholar
6Rafay, M, Murphy, EG, McGarry, JD, Kaufmann, P, DiMauro, S, Tein, I.Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation. Can J Neurol Sci. 2005;32:316–20.CrossRefGoogle Scholar
7Preston, DC, Shapiro, BE.Electromyography and neuromuscular disorders: clinical-electrophysiological correlations. 2nd ed. Philadelphia: Elsevier; 2005.Google Scholar
8Schiffman, R, Elroy-Stein, O.Childhood ataxia with CNS hypomyelination/vanishing white matter disease - a common leukodystrophy caused by abnormal control of protein synthesis. Mol Genet Metab. 2006;88:7–15.Google Scholar
9van der Voorn, JP, van Kollenberg, B, Bertrand, G, et al.The unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol. 2005;64(9):770–5.Google Scholar
10Van Kollenburg, B, van Dijk, J, Garbern, J, et al.Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol. 2006; 65(7):707–15.Google Scholar
11Hajek, M, Dezortova, M, Krsek, P.1H MR spectroscopy in epilepsy. Eur J Radiol. 2008;67:258–67.Google Scholar