User:King-Joma/Ataxia
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[edit]Sensory
[edit]Physicians can find evidence of sensory ataxia during physical examination by having patients stand with their feet together and eyes shut. In affected patients, this will cause the instability to worsen markedly, producing wide oscillations and possibly a fall; this is called a positive Romberg's test. Worsening of the finger-pointing test with the eyes closed is another feature of sensory ataxia. Also, when patients are standing with arms and hands extended toward the physician, if the eyes are closed, the patients' fingers tend to "fall down" and then be restored to the horizontal extended position by sudden muscular contractions (the "ataxic hand").[1][2]
Vestibular
[edit]The term vestibular ataxia is used to indicate ataxia due to dysfunction of the vestibular system, which in acute and unilateral cases is associated with prominent vertigo, nausea, and vomiting. In slow-onset, chronic bilateral cases of vestibular dysfunction, these characteristic manifestations may be absent, and dysequilibrium may be the sole presentation.[3]
Radiation poisoning
[edit]Ataxia can be induced as a result of severe acute radiation poisoning with an absorbed dose of more than 30 grays.[4] Furthermore, those with ataxia telangiectasia have high sensitivity towards gamma rays and x-rays. [5]
Causes of isolated sensory ataxia
[edit]Peripheral neuropathies may cause generalised or localised sensory ataxia (e.g. a limb only) depending on the extent of the neuropathic involvement. Spinal disorders of various types may cause sensory ataxia from the lesioned level below, when they involve the dorsal columns.[6][7][8]
Arnold–Chiari malformation (congenital ataxia)
[edit]Arnold–Chiari malformation is a malformation of the brain. It consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of cerebrospinal fluid outflow.[9]
Succinic semialdehyde dehydrogenase deficiency
[edit]Succinic semialdehyde dehydrogenase deficiency is an autosomal-recessive gene disorder where mutations in the ALDH5A1 gene results in the accumulation of gamma-Hydroxybutyric acid (GHB) in the blood . GHB accumulates in the nervous system and can cause ataxia as well as other neurological dysfunction.[10][11]
Wilson's disease
[edit]Wilson's disease is an autosomal-recessive gene disorder whereby an alteration of the ATP7B gene results in an inability to properly excrete copper from the body.[12] Copper accumulates in the liver and raises the toxicity levels in the nervous system causing demyelination of the nerves.[13] This can cause ataxia as well as other neurological and organ impairments.[14]
Gluten ataxia
[edit]Gluten ataxia is an autoimmune disease derived from celiac disease[15], which is triggered by the ingestion of gluten.[16][17] Early diagnosis and treatment with a gluten-free diet can improve ataxia and prevent its progression. The effectiveness of the treatment depends on the elapsed time from the onset of the ataxia until diagnosis, because the death of neurons in the cerebellum as a result of gluten exposure is irreversible.[16][18] It accounts for 40% of ataxias of unknown origin and 15% of all ataxias.[18] Less than 10% of people with gluten ataxia present any gastrointestinal symptom and only about 40% have intestinal damage.[16][18] This entity is classified into primary auto-immune cerebellar ataxias (PACA).[19]
Cerebellar ataxia associated with anti-GAD antibodies
[edit]Antibodies against the enzyme glutamic acid decarboxylase (GAD: enzyme changing glutamate into GABA) cause cerebellar deficits.[20] The antibodies impair motor learning and cause behavioral deficits.[21] GAD antibodies related ataxia is part of the group called immune-mediated cerebellar ataxias.[22] The antibodies induce a synaptopathy.[23] The cerebellum is particularly vulnerable to autoimmune disorders.[24] Cerebellar circuitry has capacities to compensate and restore function thanks to cerebellar reserve, gathering multiple forms of plasticity. LTDpathies gather immune disorders targeting long-term depression (LTD), a form of plasticity.[25]
References
[edit]- ^ Halmágyi, Gábor M.; Curthoys, Ian S. (2021-06-23). "Vestibular contributions to the Romberg test: Testing semicircular canal and otolith function". European Journal of Neurology. 28 (9): 3211–3219. doi:10.1111/ene.14942. ISSN 1351-5101.
- ^ Forbes, Jessica; Munakomi, Sunil; Cronovich, Heather (2024), "Romberg Test", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 33085334, retrieved 2024-04-16
- ^ Ashizawa, Tetsuo; Xia, Guangbin (2016-08-22). "Ataxia". CONTINUUM: Lifelong Learning in Neurology. 22 (4): 1208–1226. doi:10.1212/CON.0000000000000362. ISSN 1538-6899. PMC 5567218. PMID 27495205.
{{cite journal}}: CS1 maint: PMC format (link) - ^ "Radiation Exposure and Contamination - Injuries; Poisoning". Merck Manuals Professional Edition. Retrieved 26 December 2022.
- ^ Rothblum-Oviatt, Cynthia; Wright, Jennifer; Lefton-Greif, Maureen A.; McGrath-Morrow, Sharon A.; Crawford, Thomas O.; Lederman, Howard M. (2016-11-25). "Ataxia telangiectasia: a review". Orphanet Journal of Rare Diseases. 11 (1): 159. doi:10.1186/s13023-016-0543-7. ISSN 1750-1172. PMC 5123280. PMID 27884168.
{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link) - ^ Spinazzi M, Angelini C, Patrini C (May 2010). "Subacute sensory ataxia and optic neuropathy with thiamine deficiency". Nature Reviews. Neurology. 6 (5): 288–293. doi:10.1038/nrneurol.2010.16. PMID 20308997. S2CID 12333200.
- ^ Sghirlanzoni A, Pareyson D, Lauria G (June 2005). "Sensory neuron diseases". The Lancet. Neurology. 4 (6): 349–361. doi:10.1016/S1474-4422(05)70096-X. PMID 15907739. S2CID 35053543.
- ^ Moeller JJ, Macaulay RJ, Valdmanis PN, Weston LE, Rouleau GA, Dupré N (September 2008). "Autosomal dominant sensory ataxia: a neuroaxonal dystrophy". Acta Neuropathologica. 116 (3): 331–336. doi:10.1007/s00401-008-0362-6. PMID 18347805. S2CID 22881684.
- ^ Langridge, Benjamin; Phillips, Edward; Choi, David (2017-08-04). "Chiari Malformation Type 1: A Systematic Review of Natural History and Conservative Management". World Neurosurgery. 104: 213–219. doi:10.1016/j.wneu.2017.04.082.
- ^ Parviz M, Vogel K, Gibson KM, Pearl PL (November 2014). "Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies". Journal of Pediatric Epilepsy. 3 (4): 217–227. doi:10.3233/PEP-14097. PMC 4256671. PMID 25485164.
- ^ Didiasova, Miroslava; Banning, Antje; Brennenstuhl, Heiko; Jung-Klawitter, Sabine; Cinquemani, Claudio; Opladen, Thomas; Tikkanen, Ritva (2020-02-19). "Succinic Semialdehyde Dehydrogenase Deficiency: An Update". Cells. 9 (2): 477. doi:10.3390/cells9020477. ISSN 2073-4409. PMC 7072817. PMID 32093054.
{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link) - ^ Walshe JM. Clarke CE, Nicholl DJ (eds.). "Wilson's Disease" (PDF). Birmingham Movement Disorders Coursebook. Archived from the original (PDF) on 10 September 2011.
- ^ Ortiz, Juan Fernando; Morillo Cox, Álvaro; Tambo, Willians; Eskander, Noha; Wirth, Martín; Valdez, Margarita; Niño, Maria. "Neurological Manifestations of Wilson's Disease: Pathophysiology and Localization of Each Component". Cureus. 12 (11): e11509. doi:10.7759/cureus.11509. ISSN 2168-8184. PMC 7744205. PMID 33354453.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ Haldeman-Englert C. "Wilson's disease – PubMed Health". PubMed Health. Archived from the original on 27 July 2014.
- ^ Giuffrè, Mauro; Gazzin, Silvia; Zoratti, Caterina; Llido, John Paul; Lanza, Giuseppe; Tiribelli, Claudio; Moretti, Rita (2022-12-08). "Celiac Disease and Neurological Manifestations: From Gluten to Neuroinflammation". International Journal of Molecular Sciences. 23 (24): 15564. doi:10.3390/ijms232415564. ISSN 1422-0067. PMC 9779232. PMID 36555205.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ a b c Mitoma H, Adhikari K, Aeschlimann D, Chattopadhyay P, Hadjivassiliou M, Hampe CS, Honnorat J, Joubert B, Kakei S, Lee J, Manto M, Matsunaga A, Mizusawa H, Nanri K, Shanmugarajah P, Yoneda M, Yuki N (April 2016). "Consensus Paper: Neuroimmune Mechanisms of Cerebellar Ataxias". Cerebellum (Review). 15 (2): 213–232. doi:10.1007/s12311-015-0664-x. PMC 4591117. PMID 25823827.
- ^ Sapone A, Bai JC, Ciacci C, Dolinsek J, Green PH, Hadjivassiliou M, Kaukinen K, Rostami K, Sanders DS, Schumann M, Ullrich R, Villalta D, Volta U, Catassi C, Fasano A (February 2012). "Spectrum of gluten-related disorders: consensus on new nomenclature and classification". BMC Medicine (Review). 10: 13. doi:10.1186/1741-7015-10-13. PMC 3292448. PMID 22313950.
- ^ a b c Hadjivassiliou M, Sanders DD, Aeschlimann DP (2015). "Gluten-related disorders: gluten ataxia". Digestive Diseases (Review). 33 (2): 264–268. doi:10.1159/000369509. PMID 25925933. S2CID 207673823.
- ^ Hadjivassiliou M, Graus F, Honnorat J, Jarius S, Titulaer M, Manto M, Hoggard N, Sarrigiannis P, Mitoma H (August 2020). "Diagnostic Criteria for Primary Autoimmune Cerebellar Ataxia-Guidelines from an International Task Force on Immune-Mediated Cerebellar Ataxias". Cerebellum. 19 (4): 605–610. doi:10.1007/s12311-020-01132-8. PMC 7351847. PMID 32328884.
- ^ Mitoma H, Manto M, Hampe CS (2017). "Pathogenic Roles of Glutamic Acid Decarboxylase 65 Autoantibodies in Cerebellar Ataxias". Journal of Immunology Research. 2017: 2913297. doi:10.1155/2017/2913297. PMC 5366212. PMID 28386570.
- ^ Manto M, Honnorat J, Hampe CS, Guerra-Narbona R, López-Ramos JC, Delgado-García JM, Saitow F, Suzuki H, Yanagawa Y, Mizusawa H, Mitoma H (2015). "Disease-specific monoclonal antibodies targeting glutamate decarboxylase impair GABAergic neurotransmission and affect motor learning and behavioral functions". Frontiers in Behavioral Neuroscience. 9: 78. doi:10.3389/fnbeh.2015.00078. PMC 4375997. PMID 25870548.
- ^ Mitoma H, Manto M, Hampe CS (2019). "Immune-mediated Cerebellar Ataxias: Practical Guidelines and Therapeutic Challenges". Current Neuropharmacology. 17 (1): 33–58. doi:10.2174/1570159X16666180917105033. PMC 6341499. PMID 30221603.
- ^ Mitoma H, Honnorat J, Yamaguchi K, Manto M (July 2020). "Fundamental Mechanisms of Autoantibody-Induced Impairments on Ion Channels and Synapses in Immune-Mediated Cerebellar Ataxias". International Journal of Molecular Sciences. 21 (14): E4936. doi:10.3390/ijms21144936. PMC 6341499. PMID 32668612.
- ^ Mitoma H, Manto M, Hadjivassiliou M (January 2021). "Immune-Mediated Cerebellar Ataxias: Clinical Diagnosis and Treatment Based on Immunological and Physiological Mechanisms". Journal of Movement Disorders. 14 (1): 10–28. doi:10.14802/jmd.20040. PMC 7840241. PMID 33423437.
- ^ Hirano, Tomoo (2013). "Long-term depression and other synaptic plasticity in the cerebellum". Proceedings of the Japan Academy, Series B. 89 (5): 183–195. doi:10.2183/pjab.89.183. ISSN 0386-2208. PMC 3722574. PMID 23666089.
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