[HTML][HTML] The role of brain barriers in fluid movement in the CNS: is there a 'glymphatic'system?

NJ Abbott, ME Pizzo, JE Preston, D Janigro… - Acta …, 2018 - Springer
Brain fluids are rigidly regulated to provide stable environments for neuronal function, eg,
low K+, Ca 2+, and protein to optimise signalling and minimise neurotoxicity. At the same …

[HTML][HTML] The natural history of neurocognition in MPS disorders: a review

EG Shapiro, JB Eisengart - Molecular genetics and metabolism, 2021 - Elsevier
MPS disorders are associated with a wide spectrum of neurocognitive effects, from mild
problems with attention and executive functions to progressive and degenerative …

[HTML][HTML] Mucopolysaccharidosis type I: a review of the natural history and molecular pathology

CS Hampe, JB Eisengart, TC Lund, PJ Orchard… - Cells, 2020 - mdpi.com
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease,
caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the …

[HTML][HTML] Perivascular spaces, glymphatic system and MR

L Yu, X Hu, H Li, Y Zhao - Frontiers in Neurology, 2022 - frontiersin.org
The importance of the perivascular space (PVS) as one of the imaging markers of cerebral
small vessel disease (CSVD) has been widely appreciated by the neuroradiologists. The …

[HTML][HTML] Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

BW Bigger, DJ Begley, D Virgintino… - Molecular genetics and …, 2018 - Elsevier
Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes,
leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG …

[HTML][HTML] Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations—Neurological signs and symptoms

EG Shapiro, SA Jones, ML Escolar - Molecular genetics and metabolism, 2017 - Elsevier
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage
disorders, caused by mutations in lysosomal enzymes involved in the degradation of …

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

AJ Kundishora, G Allington, S McGee, KY Mekbib… - Nature medicine, 2023 - nature.com
Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of
developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an …

[HTML][HTML] Sanfilippo syndrome: consensus guidelines for clinical care

N Muschol, R Giugliani, SA Jones, J Muenzer… - Orphanet Journal of …, 2022 - Springer
Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative
lysosomal storage disorders that is characterized by childhood dementia. The clinical …

[HTML][HTML] Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I

C Hinderer, P Bell, BL Gurda, Q Wang, JP Louboutin… - Molecular Therapy, 2014 - cell.com
Enzyme replacement therapy has revolutionized the treatment of the somatic manifestations
of lysosomal storage diseases (LSD), although it has been ineffective in treating central …

Mucopolysaccharidosis type I newborn screening: best practices for diagnosis and management

LA Clarke, AM Atherton, BK Burton… - The Journal of …, 2017 - jpeds.com
(GAG) metabolism caused by deficiency of enzymes responsible for lysosomal GAG
degradation. The accumulation of partially degraded GAG and the resulting disturbance of …