Journal ArticleDOI
Natural Progression of Neurological Disease in Mucopolysaccharidosis Type II
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TLDR
The natural progression of MPS II manifests as 2 divergent and distinct neurologic phenotypes with similar somatic disease, which may have primary neural parenchymal disease with cognitive involvement or may maintain normal cognitive abilities.Abstract:
OBJECTIVE: Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by insufficiency of the iduronate-2-sulfatase enzyme, which results in excess heparan and dermatan sulfates within the lysosomes of various tissues and organs, including the central nervous system. The purpose of this study was to investigate the natural progression of neurologic disease in a large cohort of patients evaluated with standardized testing at a single institution. METHODS: During the period of December 2002 to October 2010, patients with MPS II were referred to the Program for Neurodevelopmental Function in Rare Disorders. A retrospective review of patient data was performed, which included the use of detailed questionnaires that addressed medical history, notes from previous health care providers, and the results of a multidisciplinary evaluation that lasted 4 to 6 hours and was performed by a team of neurodevelopmental pediatricians, speech pathologists, psychologists, audiologists, psychometricians, and occupational and physical therapists. Patients were evaluated annually for management of disease progression. RESULTS: A total of 50 male patients with MPS II were evaluated over 152 encounters. Two distinct subgroups of children were identified. One subset of patients had normal cognitive, speech and language, and adaptive functions whereas the other showed a dramatic decline in these areas. All patients developed fine and gross motor deficits. CONCLUSION: The natural progression of MPS II manifests as 2 divergent and distinct neurologic phenotypes with similar somatic disease. Patients may have primary neural parenchymal disease with cognitive involvement or may maintain normal cognitive abilities.read more
Citations
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Journal ArticleDOI
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
Elsa G Shapiro,Igor Nestrasil,Kathleen A. Delaney,Kyle Rudser,Victor Kovac,Nitin Nair,Charles W. Richard,Patrick A. J. Haslett,Chester B. Whitley +8 more
TL;DR: Developmental quotient and cortical gray matter volume are sensitive markers of disease progression in MPS IIIA, and may have utility as clinical endpoints in treatment trials.
Journal ArticleDOI
Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders
TL;DR: The anatomical and pathophysiological CNS changes accompanying HS accumulation as well as the mechanisms believed to cause CNS abnormalities in MPS patients are discussed.
Journal ArticleDOI
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
TL;DR: The history of the disease during this century is summarized through clinical and laboratory evaluations that allowed its definition, its correct diagnosis, a partial comprehension of its pathogenesis, and the proposition of therapeutic protocols.
Journal ArticleDOI
Brain-targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms.
Hélène F.E. Gleitz,Ai Yin Liao,James Cook,Samuel Rowlston,Gabriella Forte,Zelpha D'Souza,Claire O'Leary,Rebecca J. Holley,Brian W. Bigger +8 more
TL;DR: ApoEII mediated complete normalization of brain pathology and behavior, providing significantly enhanced correction compared to IDS, and brain‐targeted hematopoietic stem cell gene therapy provides a promising therapy for MPS II patients.
Journal ArticleDOI
Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations — Neurological signs and symptoms
TL;DR: The appearance and progression of neurological signs and symptoms in patients with MPS I, II, and III are described, based on presentations and discussions among an international group of experts during a meeting on the brain in MPS on April 28-30, 2016, and additional literature searches on this subject.
References
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Book
The Metabolic and Molecular Bases of Inherited Disease
TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
Journal ArticleDOI
Prevalence of lysosomal storage disorders.
TL;DR: There was no significant increase in the rate of either clinical diagnoses or prenatal diagnoses of lysosomal storage disorders during the study period, and as a group, they are relatively common and represent an important health problem in Australia.
Journal ArticleDOI
The frequency of lysosomal storage diseases in The Netherlands
Ben J. H. M. Poorthuis,Ron A. Wevers,W. J. Kleijer,Johanna E. M. Groener,J.G.N. de Jong,S. van Weely,K. E. Niezen-Koning,O. P. van Diggelen +7 more
TL;DR: The relative frequency and the birth prevalence of lysosomal storage diseases in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970–1996 is calculated.
Journal ArticleDOI
Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease
Maria L. Escolar,Michele D. Poe,James M. Provenzale,Karen C. Richards,June Allison,Susan Wood,David A. Wenger,Daniel Pietryga,Donna A. Wall,Martin A. Champagne,Richard P. Morse,William Krivit,Joanne Kurtzberg +12 more
TL;DR: Infants who underwent transplantation before the development of symptoms showed progressive central myelination and continued gains in developmental skills, and most had age-appropriate cognitive function and receptive language skills, but a few had mild- to-moderate delays in expressive language and mild-to-severe delays in gross motor function.
Journal ArticleDOI
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
Joseph Muenzer,James E. Wraith,Michael Beck,Roberto Giugliani,Paul Harmatz,Christine M. Eng,Ashok Vellodi,Rick A. Martin,Uma Ramaswami,Muge Gucsavas-Calikoglu,Suresh Vijayaraghavan,Susanne Wendt,Ana Cristina Puga,Brian Ulbrich,Marwan Shinawi,Maureen Cleary,Diane Piper,Anne Marie Conway,Alan Kimura +18 more
TL;DR: This study supports the use of weekly infusions of idursulfase in the treatment of mucopolysaccharidosis II and exhibited significant improvement in the composite endpoint compared to placebo after one year.
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