Over 300 million people globally are affected by rare diseases, many of which present predominantly with neurologic symptoms. Rare neurologic disorders pose significant diagnostic and therapeutic challenges including delayed diagnoses, limited treatment options, and a shortage of specialists. However, advancements in diagnostics, particularly next-generation sequencing and expansion of newborn screening, have significantly shortened the time to diagnosis for many of these disorders. Concurrently, the past decade has witnessed exponential development of new treatments for rare neurologic diseases, with several approved gene therapies and more trials under way. A range of targeted therapies now offers hope for not only symptomatic management but also for disease modification. As treatments transition from clinical trials to clinical practice, the responsibility of identifying and monitoring patients may increasingly fall on the general neurologists. This evolving therapeutic landscape highlights the urgent need to enhance our understanding of this new class of medications and the details on clinical eligibility and monitoring of patients with diseases that have approved gene therapies. This article provides a comprehensive overview of gene-targeted therapies currently available for neurologic disorders, with a focus on their mechanisms, challenges, and post-treatment considerations.
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http://dx.doi.org/10.1212/NXG.0000000000200229 | DOI Listing |
CNS Neurol Disord Drug Targets
January 2025
Department of Biotechnology, National Institute of Technology, Raipur, 492001, India.
Parkinson's disease (PD) is a neurodegenerative disorder that results from the progressive loss of neurons in the brain followed by symptoms such as slowness and rigidity in movement, sleep disorders, dementia and many more. The different mechanisms due to which the neuronal degeneration occurs have been discussed, such as mutation in PD related genes, formation of Lewy bodies, oxidation of dopamine. This review discusses current surgical treatment and gene therapies with novel developments proposed for PD.
View Article and Find Full Text PDFPsychiatr Hung
January 2025
Semmelweis Egyetem ÁOK Pszichiátriai és Pszichoterápiás Klinika, Budapest, Hungary, E-mail:
Autism spectrum disorder is a neurodevelopmental condition with unique characteristics of perception and neurocognition that begins in childhood and persists into adulthood. It significantly affects social integration and adaptation, and is a great challenge in terms of psychological coping. Intensive genetic and neurobiological research is focused at understanding the brain underpinnings of autism, and it is also at the forefront of pharmacological development.
View Article and Find Full Text PDFCancer Med
January 2025
Department of Pharmacology, College of Pharmacy, Jinan University, Guangzhou, China.
Background: Distinctive heterogeneity characterizes diffuse large B-cell lymphoma (DLBCL), one of the most frequent types of non-Hodgkin's lymphoma. Mitochondria have been demonstrated to be closely involved in tumorigenesis and progression, particularly in DLBCL.
Objective: The purposes of this study were to identify the prognostic mitochondria-related genes (MRGs) in DLBCL, and to develop a risk model based on MRGs and machine learning algorithms.
Histopathology
January 2025
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Aims: Classification and risk stratification of endometrial carcinoma (EC) has transitioned from histopathological features to molecular classification, e.g. the ProMisE classifier, identifying four prognostic subtypes: POLE mutant (POLEmut) with almost no recurrence or disease-specific death events, mismatch repair deficient (MMRd) and no specific molecular profile (NSMP), with intermediate outcome and p53 abnormal (p53abn) with poor outcomes.
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