Proton MR Spectroscopy in leukodystrophies

Conclusion Proton MR Spectroscopy complementary to conventional MRI proved to be a valuable tool to establish the diagnosis of leukodystrophies.
Source: The Egyptian Journal of Radiology and Nuclear Medicine - Category: Nuclear Medicine Source Type: research

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Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characterized by unusual, rapidly progressive developmental regression due to additional pathogenic mutation in ARSA. Considering the 1 in 100 chance of an MLD carrier, co-occurrence of PMS and MLD in a patient is possible if either parent carries a heterozygous ARSA mutation.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research
Conditions:   Lysosomal Storage Diseases;   Metachromatic Leukodystrophy Intervention:   Genetic: OTL-200 Sponsors:   Orchard Therapeutics;   Ospedale San Raffaele - Telethon Institute for Gene Therapy (OSR-TIGET) Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
AbstractFamilies of children with special health care needs may travel substantial distances to access specialized health care. However, it is not known how race/ethnicity, insurance status, and access to disease-specific specialty care affect travel distances. This analysis examines patients aged 18  years or younger who were discharged from a Pediatric Health Information System (PHIS) children’s hospital (n = 52) with a diagnosis of an inherited leukodystrophy between October 1, 2015, and September 30, 2018 (n = 950 patients). Leukodystrophies are rare but very serious neurological ...
Source: Journal of Racial and Ethnic Health Disparities - Category: International Medicine & Public Health Source Type: research
Publication date: Available online 15 February 2020Source: Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseAuthor(s): Sanne J.C.M. Frambach, Melissa A.E. van de Wal, Petra H.H. van den Broek, Jan A.M. Smeitink, Frans G.M. Russel, Ria de Haas, Tom J.J. SchirrisAbstractMitochondrial complex I (CI), the first multiprotein enzyme complex of the OXPHOS system, executes a major role in cellular ATP generation. Consequently, dysfunction of this complex has been linked to inherited metabolic disorders, including Leigh disease (LD), an often fatal disease in early life. Development of clinical effective treatments f...
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology Source Type: research
Authors: Reichrath J, Reichrath S Abstract The evolutionary highly conserved Notch pathway governs many cellular core processes including cell fate decisions. Although it is characterized by a simple molecular design, Notch signaling, which first developed in metazoans, represents one of the most important pathways that govern embryonic development. Consequently, a broad variety of independent inherited diseases linked to defective Notch signaling has now been identified, including Alagille, Adams-Oliver, and Hajdu-Cheney syndromes, CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leu...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Source: Acta Neurologica Belgica - Category: Neurology Source Type: research
In this study, we aimed to determine the frequency and distribution of paediatric demyelinating and encephalitic syndromes with MOG antibodies, their response to treatment, and the phenotypes associated with poor prognosis.MethodsIn this prospective observational study, children with demyelinating syndromes and with encephalitis other than acute disseminated encephalomyelitis (ADEM) recruited from 40 secondary and tertiary centres in Spain were investigated for MOG antibodies. All MOG antibody-positive cases were included in our study, which assessed syndromes, treatment and response to treatment (ie, number of relapses), ...
Source: The Lancet Neurology - Category: Neurology Source Type: research
This article is protected by copyright. All rights reserved. PMID: 32020600 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Isabel C. Yoon, Nicholas A. Bascou, Michele D. Poe, Maria L. Escolar
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
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