Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An inbred family is described in which three sibs have congenital glaucoma and two of them also have an ataxia indistinguishable from Friedreich's ataxia. The association between these two disorders has not previously been reported. The genetic mechanisms of this association are discussed.
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PMID:Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome. 335 91

Iron is essential for many metabolic processes but can also cause damage. As a potent generator of hydroxyl radical, the most reactive of the free radicals, iron can cause considerable oxidative stress. Since iron is absorbed through diet but not excreted except through menstruation, total body iron levels buildup with age. Macular iron levels increase with age, in both men and women. This iron has the potential to contribute to retinal degeneration. Here we present an overview of the evidence suggesting that iron may contribute to retinal degenerations. Intraocular iron foreign bodies cause retinal degeneration. Retinal iron buildup resulting from hereditary iron homeostasis disorders aceruloplasminemia, Friedreich's ataxia, and panthothenate kinase-associated neurodegeneration cause retinal degeneration. Mice with targeted mutation of the iron exporter ceruloplasmin have age-dependent retinal iron overload and a resulting retinal degeneration with features of age-related macular degeneration (AMD). Post mortem retinas from patients with AMD have more iron and the iron carrier transferrin than age-matched controls. Over the past 10 years much has been learned about the intricate network of proteins involved in iron handling. Many of these, including transferrin, transferrin receptor, divalent metal transporter-1, ferritin, ferroportin, ceruloplasmin, hephaestin, iron-regulatory protein, and histocompatibility leukocyte antigen class I-like protein involved in iron homeostasis (HFE) have been found in the retina. Some of these proteins have been found in the cornea and lens as well. Levels of the iron carrier transferrin are high in the aqueous and vitreous humors. The functions of these proteins in other tissues, combined with studies on cultured ocular tissues, genetically engineered mice, and eye exams on patients with hereditary iron diseases provide clues regarding their ocular functions. Iron may play a role in a broad range of ocular diseases, including glaucoma, cataract, AMD, and conditions causing intraocular hemorrhage. While iron deficiency must be prevented, the therapeutic potential of limiting iron-induced ocular oxidative damage is high. Systemic, local, or topical iron chelation with an expanding repertoire of drugs has clinical potential.
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PMID:Iron homeostasis and toxicity in retinal degeneration. 1792 Oct 41

In this section of Journal of Neuro-Ophthalmology, M. Tariq Bhatti, MD and Mark L. Moster, MD will discuss the following 6 articles:1. Gallina P, Savastano A, Becattini E, Orlandini S, Scollato A, Rizzo S, Carreras G, Di Lorenzo N, Porfirio B. Glaucoma in patients with shunt-treated normal pressure hydrocephalus. J Neurosurg. 2018;129:1078-1084.2. Pagovich OE, Vo ML, Zhao ZZ, Petropoulos IN, Yuan M, Lertsuwanroj B, Ciralsky J, Lai E, Kiss S, D'Amico DJ, Mezey JG, Malik RA, Crystal RG. Corneal confocal microscopy: neurologic disease biomarker in Friedreich ataxia. Ann Neurol. 2018;84:893-904.3. Albrecht P, Jansen A, Lee JI, Moll M, Ringelstein M, Rosenthal D, Bigalke H, Aktas O, Hartung HP, Hefter H. High prevalence of neutralizing antibodies after long-term botulinum neurotoxin therapy. Neurology. 2019;92:e48-e54.4. Eren O, Rauschel V, Ruscheweyh R, Straube A, Schankin CJ. Evidence of dysfunction in the visual association cortex in visual snow syndrome. Ann Neurol. 2018;84:946-949.5. Johnston SC, Easton JD, Farrant M, Barsan W, Conwit RA, Elm JJ, Kim AS, Lindblad AS, Palesch YY; Clinical Research Collaboration, Neurological Emergencies Treatment Trials Network, and the POINT Investigators. Clopidogrel and Aspirin in Acute Ischemic Stroke and High-Risk TIA. N Engl J Med. 2018;379:215-225.6. Scotton WJ, Botfield HF, Westgate CS, Mitchell JL, Yiangou A, Uldall MS, Jensen RH, Sinclair AJ. Topiramate is more effective than acetazolamide at lowering intracranial pressure. Cephalalgia. 2019;39:209-218.
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PMID:Literature Commentary. 3046 31