Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat

doi:10.1007/8904_2017_42

. 2018:39:39-43.

doi: 10.1007/8904_2017_42. Epub 2017 Jul 15.

Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat

Elizabeth A Bowman¹, Dennis Velakoulis^{2

3}, Patricia Desmond^{4

5}, Mark Walterfang^{6

7

8}

Affiliations

¹ Brain, Mind and Markets Laboratory, University of Melbourne, Melbourne, VIC, Australia.
² Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, VIC, Australia.
³ Melbourne Neuropsychiatry Centre, University of Melbourne, Melbourne, VIC, Australia.
⁴ Department of Radiology, University of Melbourne, Melbourne, VIC, Australia.
⁵ Department of Radiology, Royal Melbourne Hospital, Melbourne, VIC, Australia.
⁶ Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, VIC, Australia. mark.walterfang@gmail.com.
⁷ Melbourne Neuropsychiatry Centre, University of Melbourne, Melbourne, VIC, Australia. mark.walterfang@gmail.com.
⁸ Florey Institute of Neurosciences and Mental Health, Melbourne, VIC, Australia. mark.walterfang@gmail.com.

PMID: 28710748
PMCID: PMC5953894
DOI: 10.1007/8904_2017_42

Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat

Elizabeth A Bowman et al. JIMD Rep. 2018.

. 2018:39:39-43.

doi: 10.1007/8904_2017_42. Epub 2017 Jul 15.

Authors

Elizabeth A Bowman¹, Dennis Velakoulis^{2

3}, Patricia Desmond^{4

5}, Mark Walterfang^{6

7

8}

Affiliations

¹ Brain, Mind and Markets Laboratory, University of Melbourne, Melbourne, VIC, Australia.
² Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, VIC, Australia.
³ Melbourne Neuropsychiatry Centre, University of Melbourne, Melbourne, VIC, Australia.
⁴ Department of Radiology, University of Melbourne, Melbourne, VIC, Australia.
⁵ Department of Radiology, Royal Melbourne Hospital, Melbourne, VIC, Australia.
⁶ Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, VIC, Australia. mark.walterfang@gmail.com.
⁷ Melbourne Neuropsychiatry Centre, University of Melbourne, Melbourne, VIC, Australia. mark.walterfang@gmail.com.
⁸ Florey Institute of Neurosciences and Mental Health, Melbourne, VIC, Australia. mark.walterfang@gmail.com.

PMID: 28710748
PMCID: PMC5953894
DOI: 10.1007/8904_2017_42

Abstract

Niemann-Pick disease type C (NPC) is a rare neurometabolic disorder resulting in impaired intracellular lipid trafficking. The only disease-modifying treatment currently available is miglustat, an iminosugar that inhibits the accumulation of lipid metabolites in neurons and other cells. This longitudinal diffusion tensor imaging (DTI) study examined how the rate of white matter change differed between treated and non-treated adult-onset NPC patient groups. Nine adult-onset NPC patients (seven undergoing treatment with miglustat, two not treated) underwent DTI neuroimaging. Rates of change in white matter structure as indexed by Tract-Based Spatial Statistics (TBSS) of fractional anisotropy were compared between treated and untreated patients. Treated patients were found to have a significantly slower rate of white matter change in the corticospinal tracts, the thalamic radiation and the inferior longitudinal fasciculus. This is further evidence that miglustat treatment may have a protective effect on white matter structure in the adult-onset form of the disease.

Keywords: Diffusion tensor imaging; Fractional anisotropy; Miglustat; Niemann-Pick type C; White matter.

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Figures

**Fig. 1**
Areas of difference in treated vs untreated patients. Areas of significantly decreased rate of change in FA in treated compared to untreated patients. The *left column* shows sagittal, *middle column* coronal and *right column* axial images. The *top row* demonstrates a significant difference in the left corticospinal tract, the *middle row* showing changes in the left corticospinal tract and the right inferior longitudinal fasciculus and the *bottom row* demonstrating significantly different change over time in the right thalamic radiation and the right inferior longitudinal fasciculus

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References

1. Bowman EA, et al. Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat. J Neurol. 2015;262:2106–2114. doi: 10.1007/s00415-015-7819-z. - DOI - PubMed
1. German DC, et al. Neurodegeneration in the Niemann-Pick C mouse: glial involvement. Neuroscience. 2002;109:437–450. doi: 10.1016/S0306-4522(01)00517-6. - DOI - PubMed
1. Goodrum JF, Pentchev PG. Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice. J Neurosci Res. 1997;49:389–392. doi: 10.1002/(SICI)1097-4547(19970801)49:3<389::AID-JNR14>3.0.CO;2-V. - DOI - PubMed
1. Lee R, et al. Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1. Pediatr Neurol. 2014;51:669–674. doi: 10.1016/j.pediatrneurol.2014.07.028. - DOI - PMC - PubMed
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[1] Bowman EA, et al. Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat. J Neurol. 2015;262:2106–2114. doi: 10.1007/s00415-015-7819-z. - DOI - PubMed

[2] Bowman EA, et al. Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat. J Neurol. 2015;262:2106–2114. doi: 10.1007/s00415-015-7819-z. - DOI - PubMed

[3] German DC, et al. Neurodegeneration in the Niemann-Pick C mouse: glial involvement. Neuroscience. 2002;109:437–450. doi: 10.1016/S0306-4522(01)00517-6. - DOI - PubMed

[4] German DC, et al. Neurodegeneration in the Niemann-Pick C mouse: glial involvement. Neuroscience. 2002;109:437–450. doi: 10.1016/S0306-4522(01)00517-6. - DOI - PubMed

[5] Goodrum JF, Pentchev PG. Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice. J Neurosci Res. 1997;49:389–392. doi: 10.1002/(SICI)1097-4547(19970801)49:3<389::AID-JNR14>3.0.CO;2-V. - DOI - PubMed

[6] Goodrum JF, Pentchev PG. Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice. J Neurosci Res. 1997;49:389–392. doi: 10.1002/(SICI)1097-4547(19970801)49:3<389::AID-JNR14>3.0.CO;2-V. - DOI - PubMed

[7] Lee R, et al. Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1. Pediatr Neurol. 2014;51:669–674. doi: 10.1016/j.pediatrneurol.2014.07.028. - DOI - PMC - PubMed

[8] Lee R, et al. Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1. Pediatr Neurol. 2014;51:669–674. doi: 10.1016/j.pediatrneurol.2014.07.028. - DOI - PMC - PubMed

[9] March PA, et al. GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. Acta Neuropathol. 1997;94:164–172. doi: 10.1007/s004010050689. - DOI - PubMed

[10] March PA, et al. GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. Acta Neuropathol. 1997;94:164–172. doi: 10.1007/s004010050689. - DOI - PubMed

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Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat

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Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat

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