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Researchers at Henan Provincial People's Hospital in Zhengzhou, China have conducted a study on adrenoleukodystrophy, a rare neurogenetic disease. They analyzed the clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in the ABCD1 gene. The researchers also constructed wild-type and mutant vectors of the ABCD1 gene to validate the effect of the mutation on gene expression and protein production. The study aims to understand the mechanism of adrenoleukodystrophy and identify potential therapeutic targets for clinical treatment. [Extracted from the article]

A recent study conducted at the University of Tokyo in Japan focused on Adrenomyeloneuropathy (AMN), a genetic disorder caused by pathogenic variants in ABCD1. The researchers treated a 54-year-old man with slowly progressive spastic paraparesis and later development of the cerebral form of AMN. They identified a pathogenic splice-site variant of ABCD1 and elevated levels of very long-chain fatty acids, leading to the diagnosis of AMN. The study also revealed decreased levels of ABCD1 mRNA and altered mRNA transcriptional patterns associated with splice site variants, which may provide important insights into the pathogenesis of Adrenoleukodystrophy (ALD). [Extracted from the article]

A recent report from Jining Medical University in China discusses a case of adrenomyeloneuropathy (AMN) manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia. AMN is a genetic metabolic disease that is often misdiagnosed and underdiagnosed due to its clinical heterogeneity. The case study highlights the importance of early diagnosis and treatment to prevent or delay the progression of the disease. The researchers emphasize the need for clinicians to be familiar with the pathogenesis, clinical features, diagnosis, and treatment of AMN in order to identify the disease at an early stage. [Extracted from the article]

Keywords: Adrenoleukodystrophy; Adrenomyeloneuropathy; Asia; China; Genetics; Health and Medicine; Nervous System Diseases and Conditions; Neuroimaging; Neurologic Manifestations; Paraparesis; Spastic Paraparesis EN Adrenoleukodystrophy Adrenomyeloneuropathy Asia China Genetics Health and Medicine Nervous System Diseases and Conditions Neuroimaging Neurologic Manifestations Paraparesis Spastic Paraparesis 1664 1664 1 03/23/23 20230317 NES 230317 2023 MAR 17 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- A new study on spastic paraparesis is now available. Mutations in the ABCD1 gene have been identified to cause AMN.MethodsWe applied clinical evaluation, laboratory tests, and neuroimaging on three patients with progressive spastic paraparesis.". [Extracted from the article]