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Ön Boynuz Tutulumuyla Giden Hastalıklar

Yıl 2016, Cilt: 25 Sayı: 3, 269 - 303, 30.09.2016

Merve Fırıncıoğulları Burak Yavuz Filiz Koç

https://doi.org/10.17827/arsiv.29568

Öz

Ön boynuz motor nöronlar, spinal korddan çıkan uyarıları aksiyel kaslara taşıyan yolaklardır. Ön boynuz motor nöronlarının hastalıklarında ortak olarak lezyon seviyesinde gevşek parezi veya paralizi, kısmi veya tam refleks kayıpları ve kaslarda atrofi ortaya çıkar. Bu hastalıklar duyu kaybına sebep olmazlar, ama ölümcül seyredebilirler, tedavileri çoğunlukla destek tedavisidir, semptomatik tedaviler yaşam kalitesini artırmak için uygulanabilir. Bu derlemede ön boynuz hastalıkları, tanı kriterleri ve yönetimi ayrıntılı olarak tartışılmıştır.

Anahtar Kelimeler

Ön boynuz klinik bulgular laboratuvar tedavi

Kaynakça

  • Tiryaki E, Horak AH. ALS and other motor neuron diseases. Continuum (Minneap Minn) 2014;20:1185–1207.
  • CDC (Centers for Disease Control and Prevention). Global health: polio. http://www.cdc.gov/polio (accessed Dec 2015).
  • Merriam Webster Dictionary. http://www.merriam-webster.com/concise-images/72233.htm. (accessed Dec 2015)
  • Rowland LP. Diverse foms of motor neuron disease. Adv Neurol. 1982;36:1-13.
  • Gubbay SS, Kahana E, Zilber N : Amyotrophic lateral sclerosis. J Neurol. 1985;232:295-300.
  • Gajdusek DC: Foci of motor neuron disease in high incidence populations of East Asia and the Western Pacific. Adv Neurol. 1982;36:363-93.
  • Pagon RA, Adam MP, Ardinger HH. GeneReviews® [Internet]. Seattle (WA), University of Washington, Seattle, 1993-2016.
  • Neuromuscular Home Page. Washington University Neuromuscular Disease Center. http://neuromuscular.wustl.edu/ (accessed Dec 2015).
  • Giordana MT, Ferrero P, Grifoni S, Pellerino A, Naldi A, Montuschi A. Dementia and cognitive impairment in amyotrophic lateral sclerosis: a review. Neurol Sci. 2011;32:9Y16.
  • Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942-55.
  • Ticozzi N, Tiloca C, Morelli C, Colombrita C, Poletti B, Doretti A et al. Genetics of familial amyotrophic lateral sclerosis. Arch Ital Biol. 2011;149:65-82.
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59-62.
  • Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT et al. Ubiquitinated TDP- 43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314:130Y133.
  • Warraich ST, Yang S, Nicholson GA, Blair IP. TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases. Int J Biochem Cell Biol. 2010;42:1606-9.
  • Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323:1205-8.
  • Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323: 1208-11.
  • Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257-68.
  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245-56.
  • Ludolph AC, Knirsch U. Problems and pitfalls in the diagnosis of ALS. J Neurol Sci. 1999;165:14- 20.
  • Chio A. Risk factors in the early diagnosis of ALS: European epidemiological studies. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:13-8.
  • Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ‘‘Clinical limits of amyotrophic lateral sclerosis’’ workshop contributors. J Neurol Sci. 1994;124:96-107.
  • Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Diseases.. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293-9.
  • Parman Y, Özdemir C. Amyotrofik lateral skleroz. In Nöroloji e-Ders Kitabı, 2. baskı (Eds AE Öge, B Baykan). İstanbul, İstanbul Tıp Fakültesi Nöroloji Anabilim Dalı, 2011.
  • Costa J, Swash M, de Carvalho M. Awaji criteria for the diagnosis of amyotrophic lateral sclerosis: a systematic review. Arch Neurol. 2012;69:1410-6.
  • Foerster BR, Welsh RC, Feldman EL. 25 years of neuroimaging in amyotrophic lateral sclerosis. Nat Rev Neurol. 2013;9:513-24.
  • Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2012;3:CD001447.
  • Bensimon G, Lacomblez L, Meininger V. A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study Group. N Engl J Med. 1994;330:585-91.
  • Lacomblez L, Bensimon G, Leigh PN, Guillet P, Meininger V. Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis/Riluzole Study Group II. Lancet. 1996;347:1425-31.
  • Türk Nöroloji Derneği. Nöromüsküler Hastalıklar Tanı Algoritmaları. Ankara, Türk Nöroloji Derneği, 2001.
  • Ravid S, Topper L, Eviatar L. Acute onset of infantile spinal muscular atrophy. Pediatr Neurol. 2001;24:371-2.
  • Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB et al. Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR). Neurology. 2012;79:1889-97.
  • Bora E. Spinal muskuler atrofili olgularda Survival Motor Neuron Gen 1 (SMN1) delesyon sıklığı. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi. 2007;21: 71-74.
  • D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6:71.
  • Mulcahy PJ, Iremonger K, Karyka E, Herranz-Martín S, Shum KT, Tam JK et al. Gene therapy: a promising approach to treating spinal muscular atrophy. Hum Gene Ther. 2014;25:575-86.
  • Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51:157-67.
  • La Spada A. Spinal and bulbar muscular atrophy. 1999 Feb 26 [Updated 2014 Jul 3]. In GeneReviews® [Internet] (Eds RA Pagon, MP Adam, HH Ardinger). Seattle (WA), University of Washington, Seattle; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK1333/ (accessed Dec 2015)
  • Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M et al. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006;129:1446–55.
  • Ikezoe K, Yoshimura T, Taniwaki T, Matsuura E, Furuya H, Yamada T et al. Autosomal dominant familial spinal and bulbar muscular atrophy with gynecomastia. Neurology. 1999;10;53:2187-9.
  • Kikuchi S, Tashiro K, Kitagawa M, Iwasaki Y, Abe H. A mechanism of juvenile muscular atrophy localized in the hand and forearm (Hirayama’s disease)--flexion myelopathy with tight dural canal in flexion. Rinsho Shinkeigaku. 1987;27:412-9.
  • Andreadou E, Christodoulou K, Manta P, Karandreas N, Loukaidis P, Sfagos C et al. Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family. Neurologist. 2009;15:156-60.
  • Saha SP, Das SK, Gangopadhyay PK, Roy TN, Maiti B. Pattern of motor neurone disease in eastern India. Acta Neurol Scand. 1997;96:14-21.
  • Hamano T, Mutoh T, Hirayama M, Ito K, Kimura M, Aita T et al. MRI findings of benign monomelic amyotrophy of lower limb. J Neurol Sci. 1999;165:184-7.
  • Yüksel M, Kalemci O, Yüksel KZ, Ergüden C, Yücesoy K. Hirayama hastalığı ve tanıda manyetik rezonans görüntülemenin önemi. Sinir Sistemi Cerrahisi Dergisi. 2009;2:191-5.
  • Cho TA, Vaitkevicius H. Infectious myelopathies. Continuum (Minneap Minn.) 2012;18:1351-73.
  • Eser F, Akbulut L, Bodur H. Postpolio Sendromu. Turkiye Klinikleri J Med Sci. 2008;28:227-30.
  • Halstead LS, Silver JK Nonparalytic polio and postpolio syndrome. Am J Phys Med Rehabil. 2000;79:13-8.
  • Dalakas MC. The post-polio syndrome as an evolved clinical entity: definition and clinical description. Ann NY Acad Sci. 1995;753:68-80.
  • Östlund G, Broman L, Werhagen L, Borg K. Immunoglobulin treatment in post-polio syndrome: Identification of responders and non-responders. J Rehabil Med. 2015;47:727-33.

Anterior Horn Cell Diseases

Yıl 2016, Cilt: 25 Sayı: 3, 269 - 303, 30.09.2016

Merve Fırıncıoğulları Burak Yavuz Filiz Koç

https://doi.org/10.17827/arsiv.29568

Öz

The anterior horn cells control all voluntary movement. Motor activity, respiratory, speech, and swallowing functions are dependent upon signals from the anterior horn cells. Diseases that damage the anterior horn cells, therefore, have a profound impact. Symptoms of anterior horn cell loss (weakness, falling, choking) lead patients to seek medical attention. In this article, anterior horn diseases were reviewed, diagnostic criteria and management were discussed in detail.

Anahtar Kelimeler

Anterior horn clinical findings laboratuvary treatment

Kaynakça

  • Tiryaki E, Horak AH. ALS and other motor neuron diseases. Continuum (Minneap Minn) 2014;20:1185–1207.
  • CDC (Centers for Disease Control and Prevention). Global health: polio. http://www.cdc.gov/polio (accessed Dec 2015).
  • Merriam Webster Dictionary. http://www.merriam-webster.com/concise-images/72233.htm. (accessed Dec 2015)
  • Rowland LP. Diverse foms of motor neuron disease. Adv Neurol. 1982;36:1-13.
  • Gubbay SS, Kahana E, Zilber N : Amyotrophic lateral sclerosis. J Neurol. 1985;232:295-300.
  • Gajdusek DC: Foci of motor neuron disease in high incidence populations of East Asia and the Western Pacific. Adv Neurol. 1982;36:363-93.
  • Pagon RA, Adam MP, Ardinger HH. GeneReviews® [Internet]. Seattle (WA), University of Washington, Seattle, 1993-2016.
  • Neuromuscular Home Page. Washington University Neuromuscular Disease Center. http://neuromuscular.wustl.edu/ (accessed Dec 2015).
  • Giordana MT, Ferrero P, Grifoni S, Pellerino A, Naldi A, Montuschi A. Dementia and cognitive impairment in amyotrophic lateral sclerosis: a review. Neurol Sci. 2011;32:9Y16.
  • Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942-55.
  • Ticozzi N, Tiloca C, Morelli C, Colombrita C, Poletti B, Doretti A et al. Genetics of familial amyotrophic lateral sclerosis. Arch Ital Biol. 2011;149:65-82.
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59-62.
  • Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT et al. Ubiquitinated TDP- 43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314:130Y133.
  • Warraich ST, Yang S, Nicholson GA, Blair IP. TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases. Int J Biochem Cell Biol. 2010;42:1606-9.
  • Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323:1205-8.
  • Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323: 1208-11.
  • Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257-68.
  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245-56.
  • Ludolph AC, Knirsch U. Problems and pitfalls in the diagnosis of ALS. J Neurol Sci. 1999;165:14- 20.
  • Chio A. Risk factors in the early diagnosis of ALS: European epidemiological studies. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:13-8.
  • Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ‘‘Clinical limits of amyotrophic lateral sclerosis’’ workshop contributors. J Neurol Sci. 1994;124:96-107.
  • Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Diseases.. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293-9.
  • Parman Y, Özdemir C. Amyotrofik lateral skleroz. In Nöroloji e-Ders Kitabı, 2. baskı (Eds AE Öge, B Baykan). İstanbul, İstanbul Tıp Fakültesi Nöroloji Anabilim Dalı, 2011.
  • Costa J, Swash M, de Carvalho M. Awaji criteria for the diagnosis of amyotrophic lateral sclerosis: a systematic review. Arch Neurol. 2012;69:1410-6.
  • Foerster BR, Welsh RC, Feldman EL. 25 years of neuroimaging in amyotrophic lateral sclerosis. Nat Rev Neurol. 2013;9:513-24.
  • Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2012;3:CD001447.
  • Bensimon G, Lacomblez L, Meininger V. A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study Group. N Engl J Med. 1994;330:585-91.
  • Lacomblez L, Bensimon G, Leigh PN, Guillet P, Meininger V. Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis/Riluzole Study Group II. Lancet. 1996;347:1425-31.
  • Türk Nöroloji Derneği. Nöromüsküler Hastalıklar Tanı Algoritmaları. Ankara, Türk Nöroloji Derneği, 2001.
  • Ravid S, Topper L, Eviatar L. Acute onset of infantile spinal muscular atrophy. Pediatr Neurol. 2001;24:371-2.
  • Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB et al. Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR). Neurology. 2012;79:1889-97.
  • Bora E. Spinal muskuler atrofili olgularda Survival Motor Neuron Gen 1 (SMN1) delesyon sıklığı. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi. 2007;21: 71-74.
  • D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6:71.
  • Mulcahy PJ, Iremonger K, Karyka E, Herranz-Martín S, Shum KT, Tam JK et al. Gene therapy: a promising approach to treating spinal muscular atrophy. Hum Gene Ther. 2014;25:575-86.
  • Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51:157-67.
  • La Spada A. Spinal and bulbar muscular atrophy. 1999 Feb 26 [Updated 2014 Jul 3]. In GeneReviews® [Internet] (Eds RA Pagon, MP Adam, HH Ardinger). Seattle (WA), University of Washington, Seattle; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK1333/ (accessed Dec 2015)
  • Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M et al. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006;129:1446–55.
  • Ikezoe K, Yoshimura T, Taniwaki T, Matsuura E, Furuya H, Yamada T et al. Autosomal dominant familial spinal and bulbar muscular atrophy with gynecomastia. Neurology. 1999;10;53:2187-9.
  • Kikuchi S, Tashiro K, Kitagawa M, Iwasaki Y, Abe H. A mechanism of juvenile muscular atrophy localized in the hand and forearm (Hirayama’s disease)--flexion myelopathy with tight dural canal in flexion. Rinsho Shinkeigaku. 1987;27:412-9.
  • Andreadou E, Christodoulou K, Manta P, Karandreas N, Loukaidis P, Sfagos C et al. Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family. Neurologist. 2009;15:156-60.
  • Saha SP, Das SK, Gangopadhyay PK, Roy TN, Maiti B. Pattern of motor neurone disease in eastern India. Acta Neurol Scand. 1997;96:14-21.
  • Hamano T, Mutoh T, Hirayama M, Ito K, Kimura M, Aita T et al. MRI findings of benign monomelic amyotrophy of lower limb. J Neurol Sci. 1999;165:184-7.
  • Yüksel M, Kalemci O, Yüksel KZ, Ergüden C, Yücesoy K. Hirayama hastalığı ve tanıda manyetik rezonans görüntülemenin önemi. Sinir Sistemi Cerrahisi Dergisi. 2009;2:191-5.
  • Cho TA, Vaitkevicius H. Infectious myelopathies. Continuum (Minneap Minn.) 2012;18:1351-73.
  • Eser F, Akbulut L, Bodur H. Postpolio Sendromu. Turkiye Klinikleri J Med Sci. 2008;28:227-30.
  • Halstead LS, Silver JK Nonparalytic polio and postpolio syndrome. Am J Phys Med Rehabil. 2000;79:13-8.
  • Dalakas MC. The post-polio syndrome as an evolved clinical entity: definition and clinical description. Ann NY Acad Sci. 1995;753:68-80.
  • Östlund G, Broman L, Werhagen L, Borg K. Immunoglobulin treatment in post-polio syndrome: Identification of responders and non-responders. J Rehabil Med. 2015;47:727-33.
Toplam 48 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm Derleme
Yazarlar

Merve Fırıncıoğulları Bu kişi benim

Burak Yavuz Bu kişi benim

Filiz Koç Bu kişi benim

Yayımlanma Tarihi 30 Eylül 2016
Kabul Tarihi 28 Aralık 2015
Yayımlandığı Sayı Yıl 2016 Cilt: 25 Sayı: 3

Kaynak Göster

AMA Fırıncıoğulları M, Yavuz B, Koç F. Anterior Horn Cell Diseases. aktd. Eylül 2016;25(3):269-303. doi:10.17827/arsiv.29568
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