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Unifying biology of neurodegeneration in lysosomal storage diseases.
J Inherit Metab Dis
January 2025
Department of Life Sciences, Manchester Metropolitan University, Manchester, UK.
There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single-gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 different genes converge on this central cellular phenotype is unclear.
View Article and Find Full Text PDFSpectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.
Biochem Genet
January 2025
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by mutations in the arylsulfatase A (ARSA) gene. Few studies have assessed the spectrum of ARSA mutations among Iranian patients. Here, we report eight Iranian patients with clinical features of MLD.
View Article and Find Full Text PDFMetachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Genes (Basel)
November 2024
Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.
View Article and Find Full Text PDFA rare case of hydatid cyst presenting as a breast cancer. A case report.
Int J Surg Case Rep
January 2025
Debre Markos University, Surgery Department, Ethiopia. Electronic address:
Article Synopsis
- Hydatid disease, caused by the Echinococcus parasite, is a serious health issue in endemic areas, and breast involvement is notably rare; this case involves a 34-year-old Ethiopian woman initially misdiagnosed with breast cancer.
- The patient presented with a painless swelling in her left breast that persisted for nine months, without symptoms typically associated with cancer, such as discharge or skin changes.
- Diagnostic imaging and tests ultimately confirmed that the mass was a hydatid cyst, highlighting the need for healthcare professionals to consider less common conditions in their diagnosis of breast masses in endemic regions.
Relative Frequency of Metachromatic Leukodystrophy in Egypt: A Reference Laboratory Report.
Front Biosci (Schol Ed)
December 2024
Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.
Background: Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary neurodegenerative disease caused by a deficiency in arylsulfatase A (ARSA) activity and belongs to the group of lysosomal storage diseases. A biochemical diagnosis of MLD is based on determining the residual ARSA activity in leukocytes, skin fibroblasts, and urine. This study documents our biochemical experience and estimates the relative frequency of MLD over 21 years (2001-2022).
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