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A recent report from George Washington University highlights the need for standardized assessments and follow-up care for adults with X-linked Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). The study emphasizes the importance of coordinated care, genetic counseling, surveillance for adrenal insufficiency, and early identification of appropriate treatment candidates. The research proposes key strategies for diagnostic confirmation, symptom management, and guidance for potential treatments, aiming to improve outcomes for patients with ALD/AMN. This study underscores the significance of a multidisciplinary approach to longitudinal care for individuals with these conditions. [Extracted from the article]

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 new report from Intermountain Healthcare provides research findings on adrenomyeloneuropathy (AMN), a neurodegenerative disease that is a phenotype of X-linked adrenoleukodystrophy (ALD). The study aimed to characterize the burden of illness and mortality in adult men with AMN in the US. The research found that men with AMN had higher healthcare utilization, greater medical comorbidity, higher mortality rates, and younger age at death compared to individuals without AMN. This study highlights the substantial health burden imposed by AMN on men. [Extracted from the article]

A patent has been issued for compositions and methods for diagnosing and treating peroxisomal diseases. These diseases often involve the central nervous system and currently lack effective treatments. The invention involves identifying patients with active CNS disease and monitoring the course of the disease by measuring metallothioneins, which indicate a high risk of severe brain damage. The patent also includes methods for treating and identifying subjects at risk for peroxisomal diseases. [Extracted from the article]

A recent report from the China-Japan Union Hospital of Jilin University describes a case of spastic paraplegia caused by a novel mutation in the ABCD1 gene. The patient, a 29-year-old male, presented with symptoms including progressive paraplegia, weakness of the lower limbs, fecal incontinence, and sexual dysfunction. Neuroimaging and genetic testing confirmed a diagnosis of X-linked adrenoleukodystrophy (X-ALD) with an adrenomyeloneuropathy (AMN) phenotype. The findings of this case expand our understanding of ABCD1 mutations and provide valuable information for genetic counseling and management of this X-linked disorder. [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]

A recent study published by researchers from the Medical University of Vienna explores the history and pathology of adrenomyeloneuropathy (AMN), a rare genetic disorder. The study highlights the progress made in understanding AMN and related diseases over the past 50 years, thanks to the analysis of affected tissues. The researchers describe the first neuropathological description of AMN and its clinical presentation, which led to the identification of a new disease type. Despite the discovery of the gene underlying AMN in 1993, the exact mechanisms behind the broad range of symptoms remain unclear. The full article can be accessed for free through the provided link. [Extracted from the article]

A recent report from Saint Petersburg State University discusses the connection between adrenoleukodystrophy (ALD) and neurogenic lower urinary tract dysfunction (LUTD). The study highlights that patients with ALD/AMN often experience overactive bladder (OAB), which is often overlooked due to the presence of other neurological symptoms. The research emphasizes the importance of urologists in diagnosing and treating ALD/AMN, as early intervention can improve outcomes and reduce complications. The article provides a review of the current literature on OAB in patients with ALD/AMN. [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]