Synaptic dysfunction in Sanfilippo syndrome type C

Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes, leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG accumulation in cells and connective tissues ultimately results in widespread tissue and organ dysfunction. The seven MPS types currently described are heterogeneous and progressive disorders, with somatic and neurological manifestations depending on the type of accumulating GAG. Heparan sulfate (HS) is one of the GAGs stored in patients with MPS I, II, and VII and the main GAG stored in patients with MPS III. These disorders are associated with significant central nervous system (CNS) abnormalities that can manifest as impaired cognition, hyperactive and/or aggressive behavior, epilepsy, hydrocephalus, and sleeping problems. This review discusses the anatomical and pathophysiological CNS changes accompanying HS accumulation as well as the mechanisms believed to cause CNS abnormalities in MPS patients. The content of this review is based on presentations and discussions on these topics during a meeting on the brain in MPS attended by an international group of MPS experts.

show abstract

Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

Bigger

Begley

Virgintino

et al. 2018

Molecular Genetics and Metabolism

View full text Add to dashboard Cite

show abstract

Structural Parameters of the Brain and Bone Structures of the Head and Neck in Patients with Various Types of Mucopolysaccharidoses According to Magnetic Resonance Imaging of the Brain

Rykunova,

Vashakmadze,

Zhurkova

et al. 2024

Annals RAMS

View full text Add to dashboard Cite

Background. Mucopolysaccharidoses are diseases from the group of lysosomal storage diseases that have a progressive course. CNS damage is one of the main factors in the development of severe, life-threatening complications. Aims — аssessment of structural changes in the brain and bones of the head and neck in patients with various types of mucopolysaccharidoses. Methods. The research included 136 children aged from 11 months to 17 years, 81 patients of which showed various types of mucopolysaccharidoses: MPS I — 15 people, MPS II — 37, MPS III A — 10, MPS IIIB — 4, MPS IIIC — 2, MPS IVA — 6, VI — 7 people. The control group included 56 children without neurological, psychiatric and severe somatic illnesses. Results. For mucopolysaccharidoses types I, II, III and VI, the most characteristic structural changes on the brain MRI were white matter lesions, mainly periventricular: expansion of the perivascular spaces (70%), atrophy of the cerebral hemispheres (42%), hippocampus, (31%), ventriculomegaly (6.2%), stenosis of the cervical spine (64%), hydrocephalus, expansion of the cerebrospinal fluid spaces of the posterior cranial fossa, arachnoid cysts. Conclusions. The results of the obtained data analysis made it possible to identify the macrostructural specifics of the brain disorders and cervical spine in various types of MPS, as well as their prognostic significance.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Synaptic dysfunction in Sanfilippo syndrome type C

Cited by 2 publications

References 0 publications

Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

Structural Parameters of the Brain and Bone Structures of the Head and Neck in Patients with Various Types of Mucopolysaccharidoses According to Magnetic Resonance Imaging of the Brain

Contact Info

Product

Resources

About