Pediatric Ataxia: Focus on Chronic Disordersca

Evaluation of a pediatric patient presenting with ataxia can be expensive and time consuming. Acute causes tend to have a clear developmental paradigm, but chronic presentations are more likely to be secondary to a genetic disorder, either one that primarily causes ataxia or that causes ataxia as one of a multitude of symptoms. Evaluation should focus on a quick diagnosis for those that have treatment options and for those that require other systemic monitoring. Friedrich Ataxia is the most common, and genetic testing can easily confirm the suspicion.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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ConclusionsWith two different image analysis techniques, we confirmed the presence of cerebellar volume loss in FRDA, mainly affecting the posterior lobe. In particular, Lobule IX atrophy correlated with worse visuo-spatial abilities, further expanding our knowledge about the physiopathology of cognitive impairment in FRDA.
Source: Journal of Neurology - Category: Neurology Source Type: research
Publication date: Available online 28 January 2020Source: Trends in GeneticsAuthor(s): Feras E. Machour, Nabieh AyoubDefective double-strand break (DSB) repair leads to genomic instabilities that may augment carcinogenesis. DSBs trigger transient transcriptional silencing in the vicinity of transcriptionally active genes through multilayered processes instigated by Ataxia telangiectasia mutated (ATM), DNA-dependent protein kinase (DNA-PK), and poly-(ADP-ribose) polymerase 1 (PARP1). Novel factors have been identified that ensure DSB-induced silencing via two distinct pathways: direct inhibition of RNA Polymerase II (Pol II...
Source: Trends in Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionThe 12-RSACT is an inexpensive test and is easy to use, which can be administered quickly. Therefore, 12-RSACT is a promising tool to assess the upper limb ataxia in FRDA patients and even those with severe diseases.
Source: Neurological Sciences - Category: Neurology Source Type: research
AbstractEssential tremor (ET) is among the most prevalent neurological disorders and the most common cause of abnormal tremors. It is characterized by postural and action tremors ranging from 4 to 12  Hz. The treatments of choice for ET are propranolol and primidone, but their use is associated with adverse effects like hypotension, depression, and cognitive impairments. Benzodiazepines, which nonselectively enhances the effect of GABA at the GABAAα1/2/3/5 receptors, have been shown to be effective in treating ET. Their use, however, is limited due to sedation, ataxia, tolerance development and memory impairment...
Source: The Cerebellum - Category: Neurology Source Type: research
Fight Aging! publishes news and commentary relevant to the goal of ending all age-related disease, to be achieved by bringing the mechanisms of aging under the control of modern medicine. This weekly newsletter is sent to thousands of interested subscribers. To subscribe or unsubscribe from the newsletter, please visit: https://www.fightaging.org/newsletter/ Longevity Industry Consulting Services Reason, the founder of Fight Aging! and Repair Biotechnologies, offers strategic consulting services to investors, entrepreneurs, and others interested in the longevity industry and its complexities. To find out m...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Publication date: Available online 23 January 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Kalyan Mahapatra, Sujit RoyAbstractBecause of their sessile lifestyle, plants are inescapably exposed to various kinds of environmental stresses throughout their lifetime. Therefore, to regulate their growth and development, plants constantly monitor the environmental signals and respond appropriately. However, these environmental stress factors, along with some endogenous metabolites, generated in response to environmental stress factors often induce various forms of DNA damage in plant...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - Category: Cytology Source Type: research
Torres Vega R, Flores Angulo L, Cordero Navarro NY, Sigler Villanueva AA, Gámez Rodríguez O, Sagaró Zambrano I, Navas Napóles NY, García Zacarías J, Serrano Barrera OR, Ramírez Bautista MB, Estupiñán Rodríguez A, Guerra Rondón LA, Vázquez-Mojena Y, González-Zaldivar Y, Almaguer Mederos LE, Leyva-Mérida A, Cuban Hereditary Ataxias Network Abstract The prevalence estimations of hereditary ataxias are biased since most epidemiological studies are confined to isolated geographical regions and few nationwide studies are av...
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
AbstractThe prevalence estimations of hereditary ataxias are biased since most epidemiological studies are confined to isolated geographical regions and few nationwide studies are available. The study aims to assess the prevalence, distribution, and neurological features of the Cuban population with hereditary ataxias. A nationwide epidemiological study of hereditary ataxias was conducted in Cuba between March 2017 and June 2018. Patients were scheduled at the Cuban ataxia research center, various hospitals, or at their homes. Demographic and clinical variables were obtained through standardized questionnaires and validate...
Source: The Cerebellum - Category: Neurology Source Type: research
AbstractThis is a letter to the Editor concerning the recently published article by Zerem et al. The paper described a 12yo female with multisystem mitochondrial disorder (MID) due to the compound heterozygous variants c.1963_1964dupAT and p.Ile382Met inOPA1 manifesting phenotypically with congenital nystagmus, developmental delay, visual impairment, gait ataxia, epilepsy, a stroke-like episode (SLE) with encephalopathy and vomiting, and hearing impairment. This interesting case could be more meaningful by providing more information about the treatment of the SLE/stroke-like lesion (SLL), about the morphological characteri...
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya Valsa Sudhakar, Samuel Philip Oommen, Sumita DandaAnnals of Indian Academy of Neurology 2020 23(1):113-117 Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of gamma-aminobutyric acid metabolism. Children with SSADH deficiency usually manifest with developmental delay, behavioral symptoms, language dysfunction, seizures, hypotonia, extrapyramidal symptoms, and ataxia. Diagnosis of SSADH deficiency is established by an abnormal urine organic acid pattern, including increased excretion of 4-hydroxybu...
Source: Annals of Indian Academy of Neurology - Category: Neurology Authors: Source Type: research
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