Phenotypic variation between siblings with Metachromatic Leukodystrophy

Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research

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Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A. Neurological involvement results in severe disability and premature ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
We present a case of D-bifunctional protein deficiency with two significant features of interest: an atypical clinical course of juvenile onset with rapid progression, which is more characteristic of infantile onset, and an imaging appearance mimicking X-linked adrenoleukodystrophy.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Visual Diagnosis Source Type: research
(Salk Institute) Researchers from the Salk Institute found that an important quality control mechanism in baker's yeast is closely connected to hypomyelinating leukodystrophy, a debilitating disease found in children. The findings could indicate a therapeutic approach for this rare disease, as well as for multiple sclerosis and other neurodegenerative diseases.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
ABSTRACT Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology. Patient-derived iPSC models have been generated for a number of lysosomal storage disorders, including Gaucher disease, Pompe disease, Fabry disease, metachromatic leukodystrophy, the neuronal ceroid lipofuscinoses, Niemann-Pick types A and C1, and several of the mucopolysaccharidoses. Here, we review the strategies employed for reprogramming and differentiation, as well as insights in...
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Neurodegenerative Disorders REVIEW Source Type: research
We describe the first Polish patient with MSD caused by a yet undescribed pathologic variant c.337G>A [p.Glu113Lys] (i.e. p.E113K) in heterozygous combination with the known deletion allele c.519+5_519+8del [p.Ala149_Ala173del]. The clinical picture of the patient initially suggested late infantile metachromatic leukodystrophy, with developmental delay followed by regression of visual, hearing and motor abilities as the most apparent clinical symptoms. Transient signs of ichthyosis and minor dysmorphic features guided the laboratory workup towards MSD. Since MSD is a rare disease and there is a variable clinical spectru...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
In this study we demonstrate that (i) autosomal-recessive mutations inPOLR3A are a frequent cause of hereditary spastic ataxias, accounting for about 3% of hitherto genetically unclassified autosomal recessive and sporadic cases; and (ii) hypomyelination is frequently absent inPOLR3A-related syndromes, especially when intronic mutations are present, and thus can no longer be considered as the unifying feature ofPOLR3A disease. Furthermore, our results demonstrate that substantial progress in revealing the causes of Mendelian diseases can be made by exploring the non-coding sequences of the human genome.
Source: Brain - Category: Neurology Source Type: research
Conversations and healthy debate about issues facing our industry and the health care system are critical to addressing some of today ’s challenges and opportunities. The Catalyst welcomes guest contributors, including patients, stakeholders, innovators and others, to share their perspectives and point of view. Views represented here may not be those of PhRMA, though they are no less key to a healthy dialogue on issues in health care today.We are pleased to host a Q&A with Beth McGinn, operator of “A Cure for Ellie,” a non-profit foundation named for her eight-year old daughter. A Cure for Ellie supp...
Source: The Catalyst - Category: Pharmaceuticals Authors: Tags: Rare Diseases Source Type: news
Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
Before my daughter passed away from a rare disease I had never heard of "Rare Disease Day" and knew next to nothing about the impact rare disorders have on society. Over the past few years I have learned that rare diseases play a larger role in public health than most people realize and deserve consideration from the medical community, policy makers, and the general public. A rare disease is defined by the National Institute of Health (NIH) as any disease that affects less than 200,000 people at a given time. The last day in February is an internationally recognized day set aside to raise awareness of the impact...
Source: Science - The Huffington Post - Category: Science Source Type: news
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