Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice

Stroobants S, Wolf H, Callaerts-Vegh Z, Dierks T, Lübke T, D'Hooge R (2018)
FRONTIERS IN BEHAVIORAL NEUROSCIENCE 12: 15.

Download
Es wurde kein Volltext hochgeladen. Nur Publikationsnachweis!
Zeitschriftenaufsatz | Veröffentlicht | Englisch
Autor
; ; ; ; ;
Abstract / Bemerkung
Fucosidosis is a lysosomal storage disorder (LSD) caused by lysosomal alpha-L-fucosidase deficiency. Insufficient alpha-L-fucosidase activity triggers accumulation of undegraded, fucosylated glycoproteins and glycolipids in various tissues. The human phenotype is heterogeneous, but progressive motor and cognitive impairments represent the most characteristic symptoms. Recently, Fuca1-deficient mice were generated by gene targeting techniques, constituting a novel animal model for human fucosidosis. These mice display widespread LSD pathology, accumulation of secondary storage material and neuroinflammation throughout the brain, as well as progressive loss of Purkinje cells. Fuca1-deficient mice and control littermates were subjected to a battery of tests detailing different aspects of motor, emotional and cognitive function. At an early stage of disease, we observed reduced exploratory activity, sensorimotor disintegration as well as impaired spatial learning and fear memory. These early markers of neurological deterioration were related to the respective stage of neuropathology using molecular genetic and immunochemical procedures. Increased expression of the lysosomal marker Lamp1 and neuroinflammation markers was observed throughout the brain, but appeared more prominent in cerebral areas in comparison to cerebellum of Fuca1-deficient mice. This is consistent with impaired behaviors putatively related to early disruptions of motor and cognitive circuits particularly involving cerebral cortex, basal ganglia, and hippocampus. Thus, Fuca1-deficient mice represent a practical and promising fucosidosis model, which can be utilized for pathogenetic and therapeutic studies.
Erscheinungsjahr
Zeitschriftentitel
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
Band
12
Art.-Nr.
15
ISSN
PUB-ID

Zitieren

Stroobants S, Wolf H, Callaerts-Vegh Z, Dierks T, Lübke T, D'Hooge R. Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice. FRONTIERS IN BEHAVIORAL NEUROSCIENCE. 2018;12: 15.
Stroobants, S., Wolf, H., Callaerts-Vegh, Z., Dierks, T., Lübke, T., & D'Hooge, R. (2018). Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice. FRONTIERS IN BEHAVIORAL NEUROSCIENCE, 12, 15. doi:10.3389/fnbeh.2018.00069
Stroobants, S., Wolf, H., Callaerts-Vegh, Z., Dierks, T., Lübke, T., and D'Hooge, R. (2018). Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice. FRONTIERS IN BEHAVIORAL NEUROSCIENCE 12:15.
Stroobants, S., et al., 2018. Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice. FRONTIERS IN BEHAVIORAL NEUROSCIENCE, 12: 15.
S. Stroobants, et al., “Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice”, FRONTIERS IN BEHAVIORAL NEUROSCIENCE, vol. 12, 2018, : 15.
Stroobants, S., Wolf, H., Callaerts-Vegh, Z., Dierks, T., Lübke, T., D'Hooge, R.: Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice. FRONTIERS IN BEHAVIORAL NEUROSCIENCE. 12, : 15 (2018).
Stroobants, Stijn, Wolf, Heike, Callaerts-Vegh, Zsuzsanna, Dierks, Thomas, Lübke, Torben, and D'Hooge, Rudi. “Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice”. FRONTIERS IN BEHAVIORAL NEUROSCIENCE 12 (2018): 15.

39 References

Daten bereitgestellt von Europe PubMed Central.

The behavioral assessment of sensorimotor processes in the mouse: acoustic startle, sensory gating, locomotor activity, rotarod and beam walking
Curzon, 2009
A new mucopolysaccharide lipidstorage disease?
Durand, Lancet 288(), 1966
Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cells.
Ferrara ML, Occhiodoro T, Fuller M, Hawthorne WJ, Teutsch S, Tucker VE, Hopwood JJ, Stewart GJ, Anson DS., Neuromuscul. Disord. 7(5), 1997
PMID: 9267851
Age at marrow transplantation is critical for successful treatment of canine fucosidosis.
Ferrara ML, Taylor RM, Stewart GJ., Transplant. Proc. 24(5), 1992
PMID: 1413057
Associations between neurologic dysfunction and lesions in canine fucosidosis.
Fletcher JL, Taylor RM., Genes Brain Behav. 15(4), 2016
PMID: 26711085
Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis.
Fletcher JL, Kondagari GS, Vite CH, Williamson P, Taylor RM., J. Neuropathol. Exp. Neurol. 73(6), 2014
PMID: 24806306
Myelin genes are downregulated in canine fucosidosis.
Fletcher JL, Kondagari GS, Wright AL, Thomson PC, Williamson P, Taylor RM., Biochim. Biophys. Acta 1812(11), 2011
PMID: 21683140
Abnormalities of developing white matter in lysosomal storage diseases.
Folkerth RD., J. Neuropathol. Exp. Neurol. 58(9), 1999
PMID: 10499433
MR brain imaging of fucosidosis type I.
Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A., AJNR Am J Neuroradiol 22(4), 2001
PMID: 11290499
A suspected new canine storage disease.
Hartley WJ, Canfield PJ, Donnelly TM., Acta Neuropathol. 56(3), 1982
PMID: 7072491
Lower anxiety and a decrease in agonistic behaviour in Lsamp-deficient mice.
Innos J, Philips MA, Leidmaa E, Heinla I, Raud S, Reemann P, Plaas M, Nurk K, Kurrikoff K, Matto V, Visnapuu T, Mardi P, Koks S, Vasar E., Behav. Brain Res. 217(1), 2010
PMID: 20888367
Deletion of the Lsamp gene lowers sensitivity to stressful environmental manipulations in mice.
Innos J, Philips MA, Raud S, Lillevali K, Koks S, Vasar E., Behav. Brain Res. 228(1), 2011
PMID: 22155487
Canine alpha-L-fucosidosis: a storage disease of Springer Spaniels.
Kelly WR, Clague AE, Barns RJ, Bate MJ, MacKay BM., Acta Neuropathol. 60(1-2), 1983
PMID: 6880626
The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis.
Kondagari GS, Fletcher JL, Cruz R, Williamson P, Hopwood JJ, Taylor RM., Orphanet J Rare Dis 10(), 2015
PMID: 26537923
Treatment of canine fucosidosis by intracisternal enzyme infusion.
Kondagari GS, King BM, Thomson PC, Williamson P, Clements PR, Fuller M, Hemsley KM, Hopwood JJ, Taylor RM., Exp. Neurol. 230(2), 2011
PMID: 21575633
Canine fucosidosis: a neuroprogressive disorder.
Kondagari GS, Ramanathan P, Taylor R., Neurodegener Dis 8(4), 2011
PMID: 21282938
Fucosidosis type 2.
Kousseff BG, Beratis NG, Strauss L, Brill PW, Rosenfield RE, Kaplan B, Hirschhorn K., Pediatrics 57(2), 1976
PMID: 814528
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Kowalewski B, Heimann P, Ortkras T, Lullmann-Rauch R, Sawada T, Walkley SU, Dierks T, Damme M., Hum. Mol. Genet. 24(7), 2014
PMID: 25452429
Assessment of motor balance and coordination in mice using the balance beam.
Luong TN, Carlisle HJ, Southwell A, Patterson PH., J Vis Exp (49), 2011
PMID: 21445033
Parkinson’s disease
Magen, 2014
Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder.
Malatt C, Koning JL, Naheedy J., J Radiol Case Rep 9(5), 2015
PMID: 26622931
Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age.
Matthes F, Stroobants S, Gerlach D, Wohlenberg C, Wessig C, Fogh J, Gieselmann V, Eckhardt M, D'Hooge R, Matzner U., Hum. Mol. Genet. 21(11), 2012
PMID: 22388935
Advances and pitfalls of cell therapy in metabolic leukodystrophies.
Miranda CO, Brites P, Mendes Sousa M, Teixeira CA., Cell Transplant 22(2), 2012
PMID: 23006656
Lysosomal Storage Diseases-Regulating Neurodegeneration.
Onyenwoke RU, Brenman JE., J Exp Neurosci 9(Suppl 2), 2015
PMID: 27081317
Impaired appetitively as well as aversively motivated behaviors and learning in PDE10A-deficient mice suggest a role for striatal signaling in evaluative salience attribution.
Piccart E, Gantois I, Laeremans A, de Hoogt R, Meert T, Vanhoof G, Arckens L, D'Hooge R., Neurobiol Learn Mem 95(3), 2010
PMID: 21130175
Telencephalic neurocircuitry and synaptic plasticity in rodent spatial learning and memory.
Pooters T, Van der Jeugd A, Callaerts-Vegh Z, D'Hooge R., Brain Res. 1621(), 2015
PMID: 25619550
Secondary alterations of sphingolipid metabolism in lysosomal storage diseases.
Prinetti A, Prioni S, Chiricozzi E, Schuchman EH, Chigorno V, Sonnino S., Neurochem. Res. 36(9), 2011
PMID: 21207141
Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease.
Provenzale JM, Barboriak DP, Sims K., AJNR Am J Neuroradiol 16(4 Suppl), 1995
PMID: 7611045
The mouse beam walking assay offers improved sensitivity over the mouse rotarod in determining motor coordination deficits induced by benzodiazepines.
Stanley JL, Lincoln RJ, Brown TA, McDonald LM, Dawson GR, Reynolds DS., J. Psychopharmacol. (Oxford) 19(3), 2005
PMID: 15888506
Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.
Stroobants S, Van Acker NG, Verheijen FW, Goris I, Daneels GF, Schot R, Verbeek E, Knaapen MW, De Bondt A, Gohlmann HW, Crauwels ML, Mancini GM, Andries LJ, Moechars DW, D'Hooge R., Exp. Neurol. 291(), 2017
PMID: 28189729
Amelioration of clinical disease following bone marrow transplantation in fucosidase-deficient dogs.
Taylor RM, Farrow BR, Stewart GJ., Am. J. Med. Genet. 42(4), 1992
PMID: 1609845
Mucopolysaccharidosis by absence of alpha-fucosidase.
Van Hoof F, Hers HG., Lancet 1(7553), 1968
PMID: 4172303
Fucosidosis revisited: a review of 77 patients.
Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS., Am. J. Med. Genet. 38(1), 1991
PMID: 2012122
Spectrum of mutations in fucosidosis.
Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS., Eur. J. Hum. Genet. 7(1), 1999
PMID: 10094192
A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease.
Wolf H, Damme M, Stroobants S, D'Hooge R, Beck HC, Hermans-Borgmeyer I, Lullmann-Rauch R, Dierks T, Lubke T., Dis Model Mech 9(9), 2016
PMID: 27491075

Export

Markieren/ Markierung löschen
Markierte Publikationen

Open Data PUB

Web of Science

Dieser Datensatz im Web of Science®

Quellen

PMID: 29706874
PubMed | Europe PMC

Suchen in

Google Scholar