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Motor neuron atrophy

MedGen UID:
870450
•Concept ID:
C4024896
•
Disease or Syndrome
Synonym: Motor neuron degeneration
 
HPO: HP:0007373

Definition

Wasting involving the motor neuron. [from HPO]

Professional guidelines

PubMed

Advances and limitations for the treatment of spinal muscular atrophy.
Day JW, Howell K, Place A, Long K, Rossello J, Kertesz N, Nomikos G
BMC Pediatr 2022 Nov 3;22(1):632. doi: 10.1186/s12887-022-03671-x. PMID: 36329412Free PMC Article
Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.
Schorling DC, Pechmann A, Kirschner J
J Neuromuscul Dis 2020;7(1):1-13. doi: 10.3233/JND-190424. PMID: 31707373Free PMC Article
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group
Neuromuscul Disord 2018 Feb;28(2):103-115. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.005. PMID: 29290580

Recent clinical studies

Etiology

One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2.
Almaguer-Mederos LE, Jorge-Sainz Y, Almaguer-Gotay D, Aguilera-Rodríguez R, Rodríguez-Labrada R, Velázquez-Pérez L, González-Zaldívar Y, Cuello-Almarales D, Vázquez-Mojena Y, Canales-Ochoa N, Aguiar-Santiago J, Auburger G, MacLeod P
J Neurol Sci 2020 Feb 15;409:116586. Epub 2019 Nov 22 doi: 10.1016/j.jns.2019.116586. PMID: 31812845

Diagnosis

One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2.
Almaguer-Mederos LE, Jorge-Sainz Y, Almaguer-Gotay D, Aguilera-Rodríguez R, Rodríguez-Labrada R, Velázquez-Pérez L, González-Zaldívar Y, Cuello-Almarales D, Vázquez-Mojena Y, Canales-Ochoa N, Aguiar-Santiago J, Auburger G, MacLeod P
J Neurol Sci 2020 Feb 15;409:116586. Epub 2019 Nov 22 doi: 10.1016/j.jns.2019.116586. PMID: 31812845
Ciliary neurotrophic factor null allele frequencies in schizophrenia, affective disorders, and Alzheimer's disease.
Gelernter J, Van Dyck C, van Kammen DP, Malison R, Price LH, Cubells JF, Berman R, Charney DS, Heninger G
Am J Med Genet 1997 Sep 19;74(5):497-500. PMID: 9342199

Therapy

Neurotrophic factor therapy for nervous system degenerative diseases.
Hefti F
J Neurobiol 1994 Nov;25(11):1418-35. doi: 10.1002/neu.480251109. PMID: 7852995

Clinical prediction guides

One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2.
Almaguer-Mederos LE, Jorge-Sainz Y, Almaguer-Gotay D, Aguilera-Rodríguez R, Rodríguez-Labrada R, Velázquez-Pérez L, González-Zaldívar Y, Cuello-Almarales D, Vázquez-Mojena Y, Canales-Ochoa N, Aguiar-Santiago J, Auburger G, MacLeod P
J Neurol Sci 2020 Feb 15;409:116586. Epub 2019 Nov 22 doi: 10.1016/j.jns.2019.116586. PMID: 31812845
Ciliary neurotrophic factor null allele frequencies in schizophrenia, affective disorders, and Alzheimer's disease.
Gelernter J, Van Dyck C, van Kammen DP, Malison R, Price LH, Cubells JF, Berman R, Charney DS, Heninger G
Am J Med Genet 1997 Sep 19;74(5):497-500. PMID: 9342199

Supplemental Content

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