Intrathecal enzyme replacement therapy reverses cognitive
decline in mucopolysaccharidosis type I.

J 2017

Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.

NESTRASIL, Igor, Elsa SHAPIRO, Alena SVÁTKOVÁ, Patricia DICKSON, Agnes CHEN et. al.

Základní údaje

Originální název

Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.

Autoři

NESTRASIL, Igor (203 Česká republika), Elsa SHAPIRO (840 Spojené státy), Alena SVÁTKOVÁ (703 Slovensko, garant, domácí), Patricia DICKSON (840 Spojené státy), Agnes CHEN (840 Spojené státy), Amy WAKUMOTO (840 Spojené státy), Alia AHMED (840 Spojené státy), Edward STEHEL (840 Spojené státy), Sarah MCNEIL (840 Spojené státy), Curtis GRAVANCE (840 Spojené státy) a Elizabeth MAHER (840 Spojené státy)

Vydání

American Journal of Medical Genetics Part A, 2017, 1552-4825

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30101 Human genetics

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.264

Kód RIV

RIV/00216224:14740/17:00098038

Organizační jednotka

Středoevropský technologický institut

DOI

http://dx.doi.org/10.1002/ajmg.a.38073

UT WoS

000394903800034

Klíčová slova anglicky

mucopolysaccharidosis; intrathecal administration; enzyme replacement therapy; neuropsychology; magnetic resonance imaging; diffusion tensor imaging; brain; blood-brain barrier

Štítky

OA, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 16. 3. 2018 15:24, Mgr. Pavla Foltynová, Ph.D.

Anotace

V originále

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied -L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline. Neuropsychological testing and MRIs were performed twice prior (baseline, at 1 year) and twice after initiating IT rhIDU (at 2nd and 3rd years). The difference between pre- and post-treatment means was evaluated as a percentage of the change. Neurocognitive performance improved particularly in memory tests and resulted in improved school performance after IT rhIDU treatment. White matter (WM) integrity improved together with an increase of WM and corpus callosum volumes. Hippocampal and gray matter volume decreased which may either parallel reduction of glycosaminoglycan storage or reflect typical longitudinal brain changes in early adulthood. In conclusion, our outcomes suggest neurological benefits of IT rhIDU compared to the intravenous administration on brain structure and function in a single MPS IA patient. (C) 2017 Wiley Periodicals, Inc.

Návaznosti

LQ1601, projekt VaV

Název: CEITEC 2020 (Akronym: CEITEC2020)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, CEITEC 2020

Citovat

NESTRASIL, Igor, Elsa SHAPIRO, Alena SVÁTKOVÁ, Patricia DICKSON, Agnes CHEN, Amy WAKUMOTO, Alia AHMED, Edward STEHEL, Sarah MCNEIL, Curtis GRAVANCE a Elizabeth MAHER. Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I. American Journal of Medical Genetics Part A. 2017, roč. 173, č. 3, s. 780-783. ISSN 1552-4825. Dostupné z: https://dx.doi.org/10.1002/ajmg.a.38073.

@article{1393549,
   author = {Nestrasil, Igor and Shapiro, Elsa and Svátková, Alena and Dickson, Patricia and Chen, Agnes and Wakumoto, Amy and Ahmed, Alia and Stehel, Edward and McNeil, Sarah and Gravance, Curtis and Maher, Elizabeth},
   article_number = {3},
   doi = {http://dx.doi.org/10.1002/ajmg.a.38073},
   keywords = {mucopolysaccharidosis; intrathecal administration; enzyme replacement therapy; neuropsychology; magnetic resonance imaging; diffusion tensor imaging; brain; blood-brain barrier},
   language = {eng},
   issn = {1552-4825},
   journal = {American Journal of Medical Genetics Part A},
   title = {Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.},
   url = {http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38073/pdf},
   volume = {173},
   year = {2017}
}

TY  - JOUR
ID  - 1393549
AU  - Nestrasil, Igor - Shapiro, Elsa - Svátková, Alena - Dickson, Patricia - Chen, Agnes - Wakumoto, Amy - Ahmed, Alia - Stehel, Edward - McNeil, Sarah - Gravance, Curtis - Maher, Elizabeth
PY  - 2017
TI  - Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.
JF  - American Journal of Medical Genetics Part A
VL  - 173
IS  - 3
SP  - 780-783
EP  - 780-783
SN  - 15524825
KW  - mucopolysaccharidosis
KW  - intrathecal administration
KW  - enzyme replacement therapy
KW  - neuropsychology
KW  - magnetic resonance imaging
KW  - diffusion tensor imaging
KW  - brain
KW  - blood-brain barrier
UR  - http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38073/pdf
L2  - http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38073/pdf
N2  - Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied -L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline. Neuropsychological testing and MRIs were performed twice prior (baseline, at 1 year) and twice after initiating IT rhIDU (at 2nd and 3rd years). The difference between pre- and post-treatment means was evaluated as a percentage of the change. Neurocognitive performance improved particularly in memory tests and resulted in improved school performance after IT rhIDU treatment. White matter (WM) integrity improved together with an increase of WM and corpus callosum volumes. Hippocampal and gray matter volume decreased which may either parallel reduction of glycosaminoglycan storage or reflect typical longitudinal brain changes in early adulthood. In conclusion, our outcomes suggest neurological benefits of IT rhIDU compared to the intravenous administration on brain structure and function in a single MPS IA patient. (C) 2017 Wiley Periodicals, Inc.
ER  -

NESTRASIL, Igor, Elsa SHAPIRO, Alena SVÁTKOVÁ, Patricia DICKSON, Agnes CHEN, Amy WAKUMOTO, Alia AHMED, Edward STEHEL, Sarah MCNEIL, Curtis GRAVANCE a Elizabeth MAHER. Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I. \textit{American Journal of Medical Genetics Part A}. 2017, roč.~173, č.~3, s.~780-783. ISSN~1552-4825. Dostupné z: https://dx.doi.org/10.1002/ajmg.a.38073.

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