scholarly journals Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain

2018 ◽  
pp. 91-101 ◽  
Author(s):  
Leanne K. Winner ◽  
Neil R. Marshall ◽  
Robert D. Jolly ◽  
Paul J. Trim ◽  
Stephen K. Duplock ◽  
...  
Keyword(s):  
Mps Iiia

scholarly journals Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Maria De Risi ◽  
Michele Tufano ◽  
Filomena Grazia Alvino ◽  
Maria Grazia Ferraro ◽  
Giulia Torromino ◽  
...  
Keyword(s):  
Heparan Sulfate ◽  
Sch 23390 ◽  
Lysosomal Storage Disorders ◽  
Dopamine Neurons ◽  
Therapeutic Effects ◽  
Lysosomal Storage ◽  
Cellular Models ◽  
Mps Ii ◽  
Mps Iiia ◽  
Storage Disorders

AbstractLysosomal storage disorders characterized by altered metabolism of heparan sulfate, including Mucopolysaccharidosis (MPS) III and MPS-II, exhibit lysosomal dysfunctions leading to neurodegeneration and dementia in children. In lysosomal storage disorders, dementia is preceded by severe and therapy-resistant autistic-like symptoms of unknown cause. Using mouse and cellular models of MPS-IIIA, we discovered that autistic-like behaviours are due to increased proliferation of mesencephalic dopamine neurons originating during embryogenesis, which is not due to lysosomal dysfunction, but to altered HS function. Hyperdopaminergia and autistic-like behaviours are corrected by the dopamine D1-like receptor antagonist SCH-23390, providing a potential alternative strategy to the D2-like antagonist haloperidol that has only minimal therapeutic effects in MPS-IIIA. These findings identify embryonic dopaminergic neurodevelopmental defects due to altered function of HS leading to autistic-like behaviours in MPS-II and MPS-IIIA and support evidence showing that altered HS-related gene function is causative of autism.

Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients

2020 ◽  
Vol 33 (6) ◽  
pp. 793-802 ◽  
Author(s):  
Weijing Kong ◽  
Yan Meng ◽  
Liping Zou ◽  
Guang Yang ◽  
Jing Wang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Molecular Characteristics ◽  
Speech Delay ◽  
Initial Symptoms ◽  
Mps Iii ◽  
Mps Iiia

AbstractObjectivesSanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III.MethodThirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system.ResultsAmong the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations.ConclusionWhen language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.

DIAGNOSIS OF CHILDREN WITH SANFILIPPO DISEASE – PSYCHOLOGICAL, SOCIAL AND MOTOR ASSESSMENT

2020 ◽  
Vol 18 (4) ◽  
pp. 525-535
Author(s):  
Paulina Anikiej-Wiczenbach ◽  
Agata Rudnik ◽  
Monika Limanówka ◽  
Jolanta Wierzba ◽  
Arkadiusz Mański
Keyword(s):  
Cognitive Impairment ◽  
Cognitive Functioning ◽  
Somatic Symptoms ◽  
Motor Dysfunction ◽  
Daily Functioning ◽  
Following Instructions ◽  
Neurological Effects ◽  
Sanfilippo Disease ◽  
Mps Iiia ◽  
Independent Person

Sanfilippo disease (mucopolysaccharidosis, MPS IIIA) is one of the types of mucopolysaccharidosis associated with extensive neurological effects and somatic symptoms. The consequences of neurodegeneration and cognitive impairment are manifested in challenges with the daily functioning of patients who experience problems with communication and following instructions. The aim of this study was to assess the cognitive functioning of three patients with MPS IIIA and to find patterns of neurodegeneration and to make their environment more friendly. Three boys (from 5.5 to 7 years) with MPS IIIA participated in the study. Each participant attended two meetings, and his functioning was assessed by three independent person (using two-way mirror). We used Bayley’s Scale III with some modifications. Interviews with parents were also included. The communication of patients was limited to some vocalizations. Patients presented instrumental use of items, but not all of them were able to repeat actions after diagnostician or presented object permanence. The results showed that the cognitive functioning of participants was significantly hindered by problems related to motor dysfunction, hyperactivity, and ataxia. The psychological data was collated with medical results. This study allows indicating new sources giving the possibility of child phenotype variability and to create specific interventions in the field of psychological therapy for patients with MPS IIIA and their families.

A phase 1/2 clinical trial of systemic gene transfer of scAAV9.U1a.HSGSH for MPS IIIA: Safety, tolerability, and preliminary evidence of biopotency

2018 ◽  
Vol 123 (2) ◽  
pp. S46 ◽  
Author(s):  
K.M. Flanigan ◽  
K.V. Truxal ◽  
K.L. McBride ◽  
K.A. McNally ◽  
K.L. Kunkler ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Gene Transfer ◽  
Phase 1 ◽  
Preliminary Evidence ◽  
Mps Iiia

Design, baseline characteristics, and 18-24 months follow-up from the MPS IIIA natural history study

2019 ◽  
Vol 126 (2) ◽  
pp. S153
Author(s):  
Frits Wijburg ◽  
Samantha Parker ◽  
Philippe Drevot ◽  
Alice Le Meur ◽  
Anupam Chakrapani ◽  
...  
Keyword(s):  
Natural History ◽  
Natural History Study ◽  
Baseline Characteristics ◽  
Mps Iiia

Design and rationale of the LYS-SAF302 gene therapy study in mucopolysaccharidosis type IIIA (MPS IIIA) children

2019 ◽  
Vol 126 (2) ◽  
pp. S111-S112
Author(s):  
Sophie Olivier ◽  
Samantha Parker ◽  
Anupam Chakrapani ◽  
Ronald Crystal ◽  
Lisa Emrick ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mucopolysaccharidosis Type ◽  
Type Iiia ◽  
Mps Iiia ◽  
Mucopolysaccharidosis Type Iiia

scholarly journals Retinal Degeneration in MPS-IIIA Mouse Model

2020 ◽  
Vol 8 ◽  
Author(s):  
Daniela Intartaglia ◽  
Giuliana Giamundo ◽  
Elena Marrocco ◽  
Veronica Maffia ◽  
Francesco Giuseppe Salierno ◽  
...  
Keyword(s):  
Mouse Model ◽  
Retinal Degeneration ◽  
Mps Iiia

A simple method for early age phenotype confirmation using toe tissue from a mouse model of MPS IIIA

2014 ◽  
Vol 28 (8) ◽  
pp. 933-938 ◽  
Author(s):  
Paul J. Trim ◽  
Adeline A. Lau ◽  
John J. Hopwood ◽  
Marten F. Snel
Keyword(s):  
Mouse Model ◽  
Early Age ◽  
Simple Method ◽  
Mps Iiia
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