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Hereditary motor neuron disease

MedGen UID:
78728
Concept ID:
C0270763
Disease or Syndrome
Synonym: Genetic motor neuron disease
SNOMED CT: Familial motor neuron disease (49793008); Hereditary motor neuron disease (49793008)
 
Monarch Initiative: MONDO:0024257
Orphanet: ORPHA98505

Definition

Motor neuron disease that is inherited. [from NCI]

Professional guidelines

PubMed

Ilieva H, Vullaganti M, Kwan J
BMJ 2023 Oct 27;383:e075037. doi: 10.1136/bmj-2023-075037. PMID: 37890889Free PMC Article
Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H
Int J Mol Sci 2023 Jul 26;24(15) doi: 10.3390/ijms241511939. PMID: 37569314Free PMC Article
Foster LA, Salajegheh MK
Am J Med 2019 Jan;132(1):32-37. Epub 2018 Aug 1 doi: 10.1016/j.amjmed.2018.07.012. PMID: 30075105

Recent clinical studies

Etiology

Hashizume A, Katsuno M, Banno H, Suzuki K, Suga N, Mano T, Atsuta N, Oe H, Watanabe H, Tanaka F, Sobue G
Brain 2012 Sep;135(Pt 9):2838-48. Epub 2012 Jul 6 doi: 10.1093/brain/aws170. PMID: 22773541
Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Yabe I, Sasaki H, Aoki M, Morita M, Nakano I, Kanai K, Ito S, Ishikawa K, Mizusawa H, Yamamoto T, Tsuji S, Hasegawa K, Shimohata T, Nishizawa M, Miyajima H, Kanda F, Watanabe Y, Nakashima K, Tsujino A, Yamashita T, Uchino M, Fujimoto Y, Tanaka F, Sobue G; Japan SBMA Interventional Trial for TAP-144-SR (JASMITT) study group
Lancet Neurol 2010 Sep;9(9):875-84. Epub 2010 Aug 4 doi: 10.1016/S1474-4422(10)70182-4. PMID: 20691641
Banno H, Katsuno M, Suzuki K, Takeuchi Y, Kawashima M, Suga N, Takamori M, Ito M, Nakamura T, Matsuo K, Yamada S, Oki Y, Adachi H, Minamiyama M, Waza M, Atsuta N, Watanabe H, Fujimoto Y, Nakashima T, Tanaka F, Doyu M, Sobue G
Ann Neurol 2009 Feb;65(2):140-50. doi: 10.1002/ana.21540. PMID: 19259967

Diagnosis

Madsen KL, Hansen RS, Preisler N, Thøgersen F, Berthelsen MP, Vissing J
Muscle Nerve 2015 Aug;52(2):240-4. Epub 2015 May 23 doi: 10.1002/mus.24527. PMID: 25418505
Hashizume A, Katsuno M, Banno H, Suzuki K, Suga N, Mano T, Atsuta N, Oe H, Watanabe H, Tanaka F, Sobue G
Brain 2012 Sep;135(Pt 9):2838-48. Epub 2012 Jul 6 doi: 10.1093/brain/aws170. PMID: 22773541
Penttilä S, Jokela M, Hackman P, Maija Saukkonen A, Toivanen J, Udd B
Eur J Hum Genet 2012 Nov;20(11):1193-6. Epub 2012 Apr 25 doi: 10.1038/ejhg.2012.76. PMID: 22535186Free PMC Article
Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Yabe I, Sasaki H, Aoki M, Morita M, Nakano I, Kanai K, Ito S, Ishikawa K, Mizusawa H, Yamamoto T, Tsuji S, Hasegawa K, Shimohata T, Nishizawa M, Miyajima H, Kanda F, Watanabe Y, Nakashima K, Tsujino A, Yamashita T, Uchino M, Fujimoto Y, Tanaka F, Sobue G; Japan SBMA Interventional Trial for TAP-144-SR (JASMITT) study group
Lancet Neurol 2010 Sep;9(9):875-84. Epub 2010 Aug 4 doi: 10.1016/S1474-4422(10)70182-4. PMID: 20691641
Gross DW, Rajput AH, Yeung M
J Neurol Neurosurg Psychiatry 1998 Feb;64(2):217-20. doi: 10.1136/jnnp.64.2.217. PMID: 9489534Free PMC Article

Therapy

Hashizume A, Katsuno M, Banno H, Suzuki K, Suga N, Mano T, Atsuta N, Oe H, Watanabe H, Tanaka F, Sobue G
Brain 2012 Sep;135(Pt 9):2838-48. Epub 2012 Jul 6 doi: 10.1093/brain/aws170. PMID: 22773541
Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Yabe I, Sasaki H, Aoki M, Morita M, Nakano I, Kanai K, Ito S, Ishikawa K, Mizusawa H, Yamamoto T, Tsuji S, Hasegawa K, Shimohata T, Nishizawa M, Miyajima H, Kanda F, Watanabe Y, Nakashima K, Tsujino A, Yamashita T, Uchino M, Fujimoto Y, Tanaka F, Sobue G; Japan SBMA Interventional Trial for TAP-144-SR (JASMITT) study group
Lancet Neurol 2010 Sep;9(9):875-84. Epub 2010 Aug 4 doi: 10.1016/S1474-4422(10)70182-4. PMID: 20691641
Banno H, Katsuno M, Suzuki K, Tanaka F, Sobue G
Int J Mol Sci 2009 Mar;10(3):1000-12. Epub 2009 Mar 10 doi: 10.3390/ijms10031000. PMID: 19399234Free PMC Article
Banno H, Katsuno M, Suzuki K, Takeuchi Y, Kawashima M, Suga N, Takamori M, Ito M, Nakamura T, Matsuo K, Yamada S, Oki Y, Adachi H, Minamiyama M, Waza M, Atsuta N, Watanabe H, Fujimoto Y, Nakashima T, Tanaka F, Doyu M, Sobue G
Ann Neurol 2009 Feb;65(2):140-50. doi: 10.1002/ana.21540. PMID: 19259967
Banno H, Adachi H, Katsuno M, Suzuki K, Atsuta N, Watanabe H, Tanaka F, Doyu M, Sobue G
Ann Neurol 2006 Mar;59(3):520-6. doi: 10.1002/ana.20735. PMID: 16358333

Prognosis

Østern R, Fagerheim T, Ørstavik K, Holmøy T, Heiberg A, Lund-Petersen I, Strom TM, Nilssen Ø, Dahl A
Neuromuscul Disord 2012 Jun;22(6):511-21. Epub 2012 Apr 2 doi: 10.1016/j.nmd.2012.01.011. PMID: 22475618
Banno H, Katsuno M, Suzuki K, Takeuchi Y, Kawashima M, Suga N, Takamori M, Ito M, Nakamura T, Matsuo K, Yamada S, Oki Y, Adachi H, Minamiyama M, Waza M, Atsuta N, Watanabe H, Fujimoto Y, Nakashima T, Tanaka F, Doyu M, Sobue G
Ann Neurol 2009 Feb;65(2):140-50. doi: 10.1002/ana.21540. PMID: 19259967

Clinical prediction guides

Kataoka M, Sahashi K, Tsujikawa K, Takeda JI, Hirunagi T, Iida M, Katsuno M
Neurosci Res 2023 Sep;194:58-65. Epub 2023 May 3 doi: 10.1016/j.neures.2023.04.007. PMID: 37146794
Hashizume A, Katsuno M, Banno H, Suzuki K, Suga N, Mano T, Atsuta N, Oe H, Watanabe H, Tanaka F, Sobue G
Brain 2012 Sep;135(Pt 9):2838-48. Epub 2012 Jul 6 doi: 10.1093/brain/aws170. PMID: 22773541
Penttilä S, Jokela M, Hackman P, Maija Saukkonen A, Toivanen J, Udd B
Eur J Hum Genet 2012 Nov;20(11):1193-6. Epub 2012 Apr 25 doi: 10.1038/ejhg.2012.76. PMID: 22535186Free PMC Article
Banno H, Katsuno M, Suzuki K, Takeuchi Y, Kawashima M, Suga N, Takamori M, Ito M, Nakamura T, Matsuo K, Yamada S, Oki Y, Adachi H, Minamiyama M, Waza M, Atsuta N, Watanabe H, Fujimoto Y, Nakashima T, Tanaka F, Doyu M, Sobue G
Ann Neurol 2009 Feb;65(2):140-50. doi: 10.1002/ana.21540. PMID: 19259967
Hayashi M, Araki S, Arai N, Kumada S, Itoh M, Tamagawa K, Oda M, Morimatsu Y
Brain Dev 2002 Dec;24(8):770-5. doi: 10.1016/s0387-7604(02)00103-1. PMID: 12453601

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