Skleroza amiotrofike laterale, një sëmundje e re apo tashmë e njohur edhe në Shqipëri?
DOI:
https://doi.org/10.55312/op.vi2.4676Abstract
Skleroza Amiotrofike Laterale (ALS) është një sëmundje neurodegjenerative e pakurueshme, e cila karakterizohet nga një degjenerim progresiv i neuroneve motore të trurit, trungut të trurit, dhe palcës së kurrizit duke sjellë paralizë të muskujve dhe vdekje nga insuficienca respiratore brenda 2 − 5 viteve.Keywords:
Sklerozë Amiotrofike Laterale, gabapentinë, baklofen, lorazepam, edavarone, riluzole.Downloads
References
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Costa, J., and de Carvalho, M. (2016). Emerging molecular biomarker targets for amyotrophic lateral sclerosis. Clin. Chim. Acta 455, 7–14. doi: 10.1016/j.cca 2016.01.011.
-
Al-Chalabi A, Hardiman O. The epidemiology of ALS: a conspiracy of genes, environment and time. Nat Rev Neurol. 2013 Nov; 9(11):617-28.
-
Motor Neuron Diseases Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS). November. 2010. [Last accessed on 2015 Mar 24]. Available from: http://www.ninds.nih.gov.
-
Leigh PN, Ray-Chaudhuri K. Motor neuron disease. J Neurol Neurosurg Psychiatry. 1994 Aug; 57(8):886-96.
-
Zufiría, M., Gil-Bea, F. J., Fernández- Torrón, R., Poza, J. J., Muñoz- J. L., Rojas- García, R., et al. (2016). ALS: a bucket of genes, environment, metabolism and unknown ingredients. Prog. Neurobiol. 142, 104–129. doi: 10.1016/j.pneurobio.2016.05.004.
-
Talbot K: Motor neuron disease: the bare essentials. Pract Neurol. 2009;9(5):303–09. 10.1136/jnnp.2009.188151.
-
Hardiman O, van den Berg LH, Kiernan MC. Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat Rev Neurol. 2011 Oct 11; 7(11):639-49.
-
Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med. 2001 May 31;344(22):1688-700. Review.
-
Pratt, A. J., Getzoff, E. D., and Perry, J. P. (2012). Amyotrophic lateral sclerosis:update and new developments. Degener. Neurol. Neuromuscul. Dis. 2, 1–14. doi: 10.2147/dnnd. s19803.
-
Bonduelle VM. The familial forms of amyotrophic lateral sclerosis. Wiener medizinische Wochenschrift (1946). 1975; 125(21):330–1. PubMed: 1216857.
-
Costa, J., and de Carvalho, M. (2016). Emerging molecular biomarker targets foramyotrophic lateral sclerosis. Clin. Chim. 455, 7–14. doi: 10.1016/j.cca.2016.01.011.
-
Chiò A, Logroscino G, Traynor BJ, et al.: Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiolo gy.2013;41(2):118–30. 10.1159/000351153.
-
Logroscino G, Traynor BJ, Hardiman O,Chio A, Mitchell D, Swingler RJ, et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry2010; 81(4): 385-90.
-
Worms PM: The epidemiology of motor neuron diseases: are view of recent studies. J Neurol Sci 2001, 191:3-9.
-
Abhinav K, Stanton B, Johnston C, Hardstaff J, Orrell RW, Howard R, Clarke J, Sakel M, Ampong MA, Shaw CE, et al.: Amyotrophic lateral sclerosis in South-East England: a population-based study. The South- East England register for amyotrophic lateral sclerosis (SEALS Registry). Neuroepidemiology 2007,29:44-48.
-
Abhinav K, Stanton B, Johnston C, Hardstaff J, Orrell RW, Howard R, Clarke J, Sakel M, Ampong MA, Shaw CE, et al. Amyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis. (SEAL Registry) Neuroepidemiology. 2007;29:44–48.
-
Logroscino G, Traynor BJ, Hardiman O, Chio’ A, Couratier P, Mitchell JD, Swingler RJ, Beghi E, for EURALS. Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J Neurol Neurosurg Psychiatry. 2008;79:6–11.
-
Costa, J., and de Carvalho, M. (2016). Emerging molecular biomarker targets foramyotrophic lateral sclerosis. Clin. Chim. Acta 455, 7–14. doi: 10.1016/j.cca.2016.01.11
-
Zufiría, M., Gil-Bea, F. J., Fernández- Torrón, R., Poza, J. J., Muñoz-Blanco, . L., Rojas-García, R., et al. (2016). ALS: a bucket of genes, environment, metabolism and unknown ingredients. Prog. Neurobiol. 142, 104–129. doi:10.1016/j. pneurobio.2016.05.004
-
Abhinav K, Stanton B, Johnston C, Hardstaff J, Orrell RW, Howard R, et al.. Amyotrophic lateral sclerosis in South-East England: A population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry) Neuroepidemiology. 2007;29:44–8.
-
Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O. ANG mutations segregate with familial and sporadic’ amyotrophic lateral sclerosis. Nat Genet. 2006 Apr; 38(4):411-3.
-
Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology. 2008 Jan 8; 70(2):144-52.
-
Al-Chalabi A, van den Berg LH, Veldink J. Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nat Rev Neurol. 2017 Feb; 13(2):96-104.
-
Chen, S., Sayana, P., Zhang, X., and Le, W. (2013). Genetics of amyotrophic lateral sclerosis: an update. Mol. Neurodegener. 8:28. doi: 10.1186/1750-1326-8-28.
-
Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942–55.
-
Saccon RA, Bunton-Stasyshyn RK, Fisher EM, Fratta P. Is SOD1 loss of function involved in amyotrophic lateral sclerosis? Brain. 2013;136(Pt 8):2342–58.
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Sau D, De Biasi S, Vitellaro-Zuccarello L, Riso P, Guarnieri S, Porrini M, et al. Mutation of SOD1 in ALS: A gain of a loss of function. Hum
-
Mol Genet. 2007;16:1604–18.
-
Dangoumau A, Verschueren A, Hammouche E, Papon MA, Blasco H, Cherpi-Antar C, et al. Novel SOD1 mutation p. V31. A identified with a slowly progressive form of amyotrophic lateral sclerosis. Neurobiol Aging. 2014;35:266.e1–4.
-
De Vos KJ, Chapman AL, Tennant ME, Manser C, Tudor EL, Lau KF, et al. Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content. Hum Mol Genet. 2007;16:2720–8.
-
Pasinelli P, Belford ME, Lennon N, Bacskai BJ, Hyman BT, Trotti D, et al.. Amyotrophic ateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria. Neuron. 2004;43:19–30.
-
Forsberg K, Andersen PM, Marklund SL, Brännström T. Glial nuclear aggregates of superoxide dismutase-1 are regularly present in
-
patients with amyotrophic lateral sclerosis. Acta Neuropathol. 2011;121:623–34.
-
Fukai, T., and Ushio-Fukai, M. (2011). Superoxide dismutases: role in redoxsignaling, vascular function, and disease. Antioxid. Redox Signal. 15,1583–1606. doi: 10.1089/ ars.2011.3999.
-
Gurney ME, et al. Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation. Science. 1994; 264:1772–1775.
-
Wong PC, et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron. 1995; 14:1105–1116.
-
Kaur, S. J., McKeown, S. R., and Rashid, S. (2016). Mutant SOD1 mediated pathogenesis of amyotrophic lateral sclerosis. Gene 577,
-
–118.doi: 10.1016/j.gene.2015.11.049.
-
Shaw PJ: Molecular and cellular pathways of neurodegenerationin motor neurone disease. J Neurol Neurosurg Psychiatry 2005,76:1046-
-
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-
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Deng, H. X., Hentati, A., Tainer, J. A., Iqbal, Z., Cayabyab, A., Hung, W. Y.,et al (1993). Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 261, 1047–1051. doi: 10.1126/science.8351519.
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Bozzoni V, Pansarasa O, Diamanti L, Nosari G, Cereda C, Ceroni M. Amyotrophic lateral sclerosis and environmental factors. Funct Neurol. 2016 Jan-Mar; 31(1):7-19.
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Singh G, Khurana D. Neurology of acute organophosphate poisoning. Neurol India. 2009 Mar-Apr; 57(2):119-25.
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Christina M Lewis1 and Masatoshi Suzuki2* Therapeutic applications of mesenchymal stem cells for amyotrophic lateral sclerosis. Lewis
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References
Costa, J., and de Carvalho, M. (2016). Emerging molecular biomarker targets for amyotrophic lateral sclerosis. Clin. Chim. Acta 455, 7–14. doi: 10.1016/j.cca 2016.01.011.
Al-Chalabi A, Hardiman O. The epidemiology of ALS: a conspiracy of genes, environment and time. Nat Rev Neurol. 2013 Nov; 9(11):617-28.
Motor Neuron Diseases Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS). November. 2010. [Last accessed on 2015 Mar 24]. Available from: http://www.ninds.nih.gov.
Leigh PN, Ray-Chaudhuri K. Motor neuron disease. J Neurol Neurosurg Psychiatry. 1994 Aug; 57(8):886-96.
Zufiría, M., Gil-Bea, F. J., Fernández- Torrón, R., Poza, J. J., Muñoz- J. L., Rojas- García, R., et al. (2016). ALS: a bucket of genes, environment, metabolism and unknown ingredients. Prog. Neurobiol. 142, 104–129. doi: 10.1016/j.pneurobio.2016.05.004.
Talbot K: Motor neuron disease: the bare essentials. Pract Neurol. 2009;9(5):303–09. 10.1136/jnnp.2009.188151.
Hardiman O, van den Berg LH, Kiernan MC. Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat Rev Neurol. 2011 Oct 11; 7(11):639-49.
Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med. 2001 May 31;344(22):1688-700. Review.
Pratt, A. J., Getzoff, E. D., and Perry, J. P. (2012). Amyotrophic lateral sclerosis:update and new developments. Degener. Neurol. Neuromuscul. Dis. 2, 1–14. doi: 10.2147/dnnd. s19803.
Bonduelle VM. The familial forms of amyotrophic lateral sclerosis. Wiener medizinische Wochenschrift (1946). 1975; 125(21):330–1. PubMed: 1216857.
Costa, J., and de Carvalho, M. (2016). Emerging molecular biomarker targets foramyotrophic lateral sclerosis. Clin. Chim. 455, 7–14. doi: 10.1016/j.cca.2016.01.011.
Chiò A, Logroscino G, Traynor BJ, et al.: Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiolo gy.2013;41(2):118–30. 10.1159/000351153.
Logroscino G, Traynor BJ, Hardiman O,Chio A, Mitchell D, Swingler RJ, et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry2010; 81(4): 385-90.
Worms PM: The epidemiology of motor neuron diseases: are view of recent studies. J Neurol Sci 2001, 191:3-9.
Abhinav K, Stanton B, Johnston C, Hardstaff J, Orrell RW, Howard R, Clarke J, Sakel M, Ampong MA, Shaw CE, et al.: Amyotrophic lateral sclerosis in South-East England: a population-based study. The South- East England register for amyotrophic lateral sclerosis (SEALS Registry). Neuroepidemiology 2007,29:44-48.
Abhinav K, Stanton B, Johnston C, Hardstaff J, Orrell RW, Howard R, Clarke J, Sakel M, Ampong MA, Shaw CE, et al. Amyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis. (SEAL Registry) Neuroepidemiology. 2007;29:44–48.
Logroscino G, Traynor BJ, Hardiman O, Chio’ A, Couratier P, Mitchell JD, Swingler RJ, Beghi E, for EURALS. Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J Neurol Neurosurg Psychiatry. 2008;79:6–11.
Costa, J., and de Carvalho, M. (2016). Emerging molecular biomarker targets foramyotrophic lateral sclerosis. Clin. Chim. Acta 455, 7–14. doi: 10.1016/j.cca.2016.01.11
Zufiría, M., Gil-Bea, F. J., Fernández- Torrón, R., Poza, J. J., Muñoz-Blanco, . L., Rojas-García, R., et al. (2016). ALS: a bucket of genes, environment, metabolism and unknown ingredients. Prog. Neurobiol. 142, 104–129. doi:10.1016/j. pneurobio.2016.05.004
Abhinav K, Stanton B, Johnston C, Hardstaff J, Orrell RW, Howard R, et al.. Amyotrophic lateral sclerosis in South-East England: A population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry) Neuroepidemiology. 2007;29:44–8.
Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O. ANG mutations segregate with familial and sporadic’ amyotrophic lateral sclerosis. Nat Genet. 2006 Apr; 38(4):411-3.
Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology. 2008 Jan 8; 70(2):144-52.
Al-Chalabi A, van den Berg LH, Veldink J. Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nat Rev Neurol. 2017 Feb; 13(2):96-104.
Chen, S., Sayana, P., Zhang, X., and Le, W. (2013). Genetics of amyotrophic lateral sclerosis: an update. Mol. Neurodegener. 8:28. doi: 10.1186/1750-1326-8-28.
Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942–55.
Saccon RA, Bunton-Stasyshyn RK, Fisher EM, Fratta P. Is SOD1 loss of function involved in amyotrophic lateral sclerosis? Brain. 2013;136(Pt 8):2342–58.
Sau D, De Biasi S, Vitellaro-Zuccarello L, Riso P, Guarnieri S, Porrini M, et al. Mutation of SOD1 in ALS: A gain of a loss of function. Hum
Mol Genet. 2007;16:1604–18.
Dangoumau A, Verschueren A, Hammouche E, Papon MA, Blasco H, Cherpi-Antar C, et al. Novel SOD1 mutation p. V31. A identified with a slowly progressive form of amyotrophic lateral sclerosis. Neurobiol Aging. 2014;35:266.e1–4.
De Vos KJ, Chapman AL, Tennant ME, Manser C, Tudor EL, Lau KF, et al. Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content. Hum Mol Genet. 2007;16:2720–8.
Pasinelli P, Belford ME, Lennon N, Bacskai BJ, Hyman BT, Trotti D, et al.. Amyotrophic ateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria. Neuron. 2004;43:19–30.
Forsberg K, Andersen PM, Marklund SL, Brännström T. Glial nuclear aggregates of superoxide dismutase-1 are regularly present in
patients with amyotrophic lateral sclerosis. Acta Neuropathol. 2011;121:623–34.
Fukai, T., and Ushio-Fukai, M. (2011). Superoxide dismutases: role in redoxsignaling, vascular function, and disease. Antioxid. Redox Signal. 15,1583–1606. doi: 10.1089/ ars.2011.3999.
Gurney ME, et al. Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation. Science. 1994; 264:1772–1775.
Wong PC, et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron. 1995; 14:1105–1116.
Kaur, S. J., McKeown, S. R., and Rashid, S. (2016). Mutant SOD1 mediated pathogenesis of amyotrophic lateral sclerosis. Gene 577,
–118.doi: 10.1016/j.gene.2015.11.049.
Shaw PJ: Molecular and cellular pathways of neurodegenerationin motor neurone disease. J Neurol Neurosurg Psychiatry 2005,76:1046-
Pasinelli P, Brown RH: Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci2006,7:710-723.
Shaw, P. J., and Eggett, C. J. (2000). Molecular factors underlying selective vulnerability of motor neurons to neurodegeneration in amyotrophic lateral sclerosis. J. Neurol. 247, I17–I27. doi: 10.1007/s004150050553.
Rothstein JD, Tsai G, Kuncl RW, Clawson L, Cornblath DR, Drachman DB, Pestronk A, Stauch BL, Coyle JT: Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis. AnnNeurol1990, 28:18-25.
Sundaram, R. S., Gowtham, L., and Nayak, B. S. (2012). The role of excitatory neurotransmitter glutamate in brain physiology and pathology. Asian J. Pharm. Clin. Res. 5, 1–7.
Shaw PJ, Forrest V, Ince PG, Richardson JP, Wastell HJ: CSF and plasma amino acid levels in motor neuron disease: elevation of CSF glutamate in a subset of patients. Neurodegeneration 1995, 4:209-216.
Deng, H. X., Hentati, A., Tainer, J. A., Iqbal, Z., Cayabyab, A., Hung, W. Y.,et al (1993). Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 261, 1047–1051. doi: 10.1126/science.8351519.
Pamela J, Shaw PGI, Falkous Gavin, Mantle David: Oxidative damageto protein in sporadic motor neuron disease spinal cord. Annals of Neurology 1995, 38:691-695.
Hideo Tohgi TA, Kinya Yamazaki, Takahiko Murata, Eri Ishizaki, Chiaki Isobe: Remarkable increase in cerebrospinal fluid 3-nitrotyrosinein
patients with sporadic amyotrophic lateral sclerosis. Annals of Neurology 1999, 46:129- 131.
Alonso A, Logroscino G, Hernán MAJ. Smoking and the risk of amyotrophic lateral sclerosis: a systematic review and metaanalysis. Neurol Neurosurg Psychiatry. 2010 Nov; 81(11):1249-52.
Fang F, Bellocco R, Hernán MA, Ye W. Smoking, snuff dipping and the risk of amyotrophic lateral sclerosis--a prospective cohort study. Neuroepidemiology. 2006; 27(4):217-21.
Huisman MH, Seelen M, de Jong SW, et al. Lifetime physical activity and the riskof amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2013;84:976–81.
Bozzoni V, Pansarasa O, Diamanti L, Nosari G, Cereda C, Ceroni M. Amyotrophic lateral sclerosis and environmental factors. Funct Neurol. 2016 Jan-Mar; 31(1):7-19.
Singh G, Khurana D. Neurology of acute organophosphate poisoning. Neurol India. 2009 Mar-Apr; 57(2):119-25.
Christina M Lewis1 and Masatoshi Suzuki2* Therapeutic applications of mesenchymal stem cells for amyotrophic lateral sclerosis. Lewis
and Suzuki Stem Cell Research &Therapy2014, 5:32http://stemcellres.com/content/5/2/32.
Miller RG, Jackson CE, Kasarskis EJ, et al. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 2009;73(15):1218–1226. Erratum in: Neurology 2010;74(9):781; Neurology 2009;73(24):2134.
Miller RG, Jackson CE, Kasarskis EJ, et al. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 2009;73(15):1227–1233.
Radicava (edaravone) prescribing information. Jersey City, New Jersey: MT Pharma America, Inc.; May 2017.
Coffey JR, Cahill D, Steers W, et al. Intrathecal baclofen for intractable spasticity of spinal origin: results of a long-term multicenter study. J Neurosurg1993;78:226–32.
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