We used phosphorus magnetic resonance spectroscopy (31P-MRS) to study in vivo brain and muscle bioenergetics in a male patient with Leber's hereditary optic neuropathy (LHON) and mtDNA mutation at 11,778 bp who developed spastic paraparesis with white matter lesions on brain MR imaging. The study was performed before and during treatment with idebenone (135 mg t.i.d.) and after withdrawal. Clinical amelioration and worsening were associated with parallel changes in brain and skeletal muscle bioenergetics following the administration or withdrawal of idebenone. Reversal of paraparesis by idebenone was paralleled by normalization of 31P-MRS, serum lactate and central motor conduction. Extra-ocular neurological dysfunction in LHON may be amenable to treatment by appropriate quinones.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0022-510x(96)00311-5 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Author response to: OSIN-D-24-01586, "Revisiting the safety of romosozumab in Japan: the need for clear contraindications for patients with cardiovascular risk".
Osteoporos Int
January 2025
Department of Pharmacoepidemiology, Graduate School of Medicine and Public Health, Kyoto University, Kyoto, Japan.
Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies.
Genes (Basel)
November 2024
Department of Medicine and Surgery, University of Enna "Kore", Piazza dell'Università, 94100 Enna, Italy.
/: Optic neuropathies are a category of illnesses that ultimately cause damage to the optic nerve, leading to vision impairment and possible blindness. Disorders such as dominant optic atrophy (DOA), Leber hereditary optic neuropathy (LHON), and glaucoma demonstrate intricate genetic foundations and varied phenotypic manifestations. This narrative review study seeks to consolidate existing knowledge on the genetic and molecular mechanisms underlying ocular neuropathies, examine genotype-phenotype correlations, and assess novel therapeutic options to improve diagnostic and treatment methodologies.
View Article and Find Full Text PDFPhosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDFAberrant Complement Activation Is Associated With Structural Brain Damage in Multiple Sclerosis.
Neurol Neuroimmunol Neuroinflamm
March 2025
Department of Neurology with Institute of Translational Neurology, University Hospital 4 Münster, Germany.
Article Synopsis
- Elevated levels of activated complement proteins in cerebrospinal fluid (CSF) are linked to increased severity of multiple sclerosis (MS) and correlate with brain imaging and disease biomarkers.
- A study involving 239 patients analyzed various complement components and liquid biomarkers in CSF, finding specific proteins like C4a, Ba, and C3a strongly associated with accelerated brain atrophy and lesion formation.
- Results indicate that higher levels of these complement proteins are predictive of greater brain volume loss and increased development of lesions, suggesting their potential role as biomarkers for disease progression in MS.
Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.
Indian J Ophthalmol
December 2024
Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Purpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India.
Design: Retrospective observational study.
Methods: The study includes patients with a clinical diagnosis of LCA who underwent genetic testing from January 2016 to December 2021.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!