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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

An instance of motor neuron disease that is caused by an inherited modification of the individual's genome. [from MONDO]

Professional guidelines

PubMed

Advances in molecular pathology, diagnosis, and treatment of amyotrophic lateral sclerosis.
Ilieva H, Vullaganti M, Kwan J
BMJ 2023 Oct 27;383:e075037. doi: 10.1136/bmj-2023-075037. PMID: 37890889Free PMC Article
Motor Neuron Disease: Pathophysiology, Diagnosis, and Management.
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
Spasticity: pathophysiology, evaluation and management.
Kheder A, Nair KP
Pract Neurol 2012 Oct;12(5):289-98. doi: 10.1136/practneurol-2011-000155. PMID: 22976059

Recent clinical studies

Etiology

Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy.
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
Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial.
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
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy.
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

Training improves oxidative capacity, but not function, in spinal muscular atrophy type III.
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
Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy.
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
Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.
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
Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial.
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
Distal hereditary upper limb muscular atrophy.
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

Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy.
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
Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial.
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
Neuropathology and therapeutic intervention in spinal and bulbar muscular atrophy.
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
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy.
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
Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker.
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

Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.
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
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy.
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

Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy.
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
Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy.
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
Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.
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
Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker.
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
Oxidative stress and disturbed glutamate transport in spinal muscular atrophy.
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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