NDLI: Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat

Content Provider	PubMed Central
Author	Frédéric, Sedel Chabrol, Brigitte Bertrand, Audoin Elsa, Kaphan Tranchant, Christine Tomasz, Burzykowski Tourbah, Ayman Vanier, Marie T. Damien, Galanaud
Abstract	Niemann–Pick disease type C (NP-C) is a fatal progressive neurolipidosis involving neuronal storage of cholesterol and gangliosides. Miglustat, an inhibitor of glycosphingolipid synthesis, has been approved to treat neurological manifestations in adults and children with NP-C. This open-label observational study in adults with confirmed NP-C evaluated the efficacy of miglustat (200 mg t.i.d.) based on composite functional disability (CFD) scores and brain proton magnetic resonance spectroscopy (H-MRS) measurement of choline (Cho)/N-acetyl aspartate (NAA) ratio in the centrum ovale. Overall, 16 patients were included and received miglustat for a mean period of 30.6 months: 12 continued on miglustat throughout follow up, and 4 discontinued miglustat because of adverse effects (n = 2) or perceived lack of efficacy (n = 2). In the ‘continued’ subgroup, the mean (SD) annual progression of CFD scores decreased from 0.75 (0.94) before treatment to 0.29 (1.29) during the period between miglustat initiation and last follow-up. In the discontinued subgroup, CFD progression increased from 0.48 (0.44) pre-treatment to 1.49 (1.31) at last follow up (off treatment). Mean (SD) Cho/NAA ratio [normal level 0.48 (0.076)] decreased during miglustat treatment in the continued subgroup: 0.64 (0.12) at baseline (miglustat initiation), 0.59 (0.17) at 12-month follow up, and 0.48 (0.09) at 24-month follow up. Cho/NAA ratio remained relatively stable in the discontinued subgroup: 0.57 (0.15), 0.53 (0.04) and 0.55 (0.09), respectively. In conclusion, H-MRS Cho/NAA ratio might serve as an objective, quantitative neurological marker of brain dysfunction in NP-C, allowing longitudinal analysis of the therapeutic effect of miglustat.
Related Links	http://dx.doi.org/10.1007/s00415-016-8051-1
Ending Page	936
Page Count	10
Starting Page	927
File Format	PDF
ISSN	03405354
e-ISSN	14321459
Journal	Journal of Neurology
Volume Number	263
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2016-05-01
Access Restriction	Open
Rights Holder	Springer Berlin Heidelberg
Subject Keyword	Neurology Clinical Neurology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Neurology Neurology (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Miglustat in Niemann-Pick disease type C patients: a review

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat

Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat

Similar Documents

Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Miglustat in Niemann-Pick disease type C patients: a review

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat

Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat