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Amyotrophic lateral sclerosis type 7(ALS7)

MedGen UID:
334136
Concept ID:
C1842674
Disease or Syndrome
Synonym: ALS7
SNOMED CT: Amyotrophic lateral sclerosis type 7 (1204349002); ALS7 - amyotrophic lateral sclerosis type 7 (1204349002)
 
Monarch Initiative: MONDO:0011952
OMIM®: 608031

Definition

A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Cytogenetic location is 20p13. [from SNOMEDCT_US]

Professional guidelines

PubMed

James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Wadman RI, van der Pol WL, Bosboom WM, Asselman FL, van den Berg LH, Iannaccone ST, Vrancken AF
Cochrane Database Syst Rev 2020 Jan 6;1(1):CD006282. doi: 10.1002/14651858.CD006282.pub5. PMID: 32006461Free PMC Article
Wadman RI, van der Pol WL, Bosboom WM, Asselman FL, van den Berg LH, Iannaccone ST, Vrancken AF
Cochrane Database Syst Rev 2019 Dec 11;12(12):CD006281. doi: 10.1002/14651858.CD006281.pub5. PMID: 31825542Free PMC Article

Curated

Orphanet, Amyotrophic lateral sclerosis, 2007

Recent clinical studies

Etiology

James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Larsson SC, Burgess S
BMC Med 2021 Dec 15;19(1):320. doi: 10.1186/s12916-021-02188-x. PMID: 34906131Free PMC Article
D'Amico E, Grosso G, Nieves JW, Zanghì A, Factor-Litvak P, Mitsumoto H
Nutrients 2021 Jun 30;13(7) doi: 10.3390/nu13072273. PMID: 34209133Free PMC Article
Chatwin M, Simonds AK
Respir Care 2020 Feb;65(2):135-143. Epub 2019 Nov 5 doi: 10.4187/respcare.06882. PMID: 31690614
Salminen A, Kaarniranta K, Kauppinen A, Ojala J, Haapasalo A, Soininen H, Hiltunen M
Prog Neurobiol 2013 Jul-Aug;106-107:33-54. Epub 2013 Jul 1 doi: 10.1016/j.pneurobio.2013.06.002. PMID: 23827971

Diagnosis

Li JY, Cui LY, Sun XH, Shen DC, Yang XZ, Liu Q, Liu MS
Ann Clin Transl Neurol 2022 Jul;9(7):1027-1038. Epub 2022 May 18 doi: 10.1002/acn3.51580. PMID: 35584112Free PMC Article
Puopolo M, Bacigalupo I, Piscopo P, Lacorte E, Di Pucchio A, Santarelli M, Inghilleri M, Petrucci A, Sabatelli M; Latium Registry Group, Vanacore N
Brain Behav 2021 Dec;11(12):e2378. Epub 2021 Oct 30 doi: 10.1002/brb3.2378. PMID: 34716673Free PMC Article
GBD 2017 US Neurological Disorders Collaborators, Feigin VL, Vos T, Alahdab F, Amit AML, Bärnighausen TW, Beghi E, Beheshti M, Chavan PP, Criqui MH, Desai R, Dhamminda Dharmaratne S, Dorsey ER, Wilder Eagan A, Elgendy IY, Filip I, Giampaoli S, Giussani G, Hafezi-Nejad N, Hole MK, Ikeda T, Owens Johnson C, Kalani R, Khatab K, Khubchandani J, Kim D, Koroshetz WJ, Krishnamoorthy V, Krishnamurthi RV, Liu X, Lo WD, Logroscino G, Mensah GA, Miller TR, Mohammed S, Mokdad AH, Moradi-Lakeh M, Morrison SD, Shivamurthy VKN, Naghavi M, Nichols E, Norrving B, Odell CM, Pupillo E, Radfar A, Roth GA, Shafieesabet A, Sheikh A, Sheikhbahaei S, Shin JI, Singh JA, Steiner TJ, Stovner LJ, Wallin MT, Weiss J, Wu C, Zunt JR, Adelson JD, Murray CJL
JAMA Neurol 2021 Feb 1;78(2):165-176. doi: 10.1001/jamaneurol.2020.4152. PMID: 33136137Free PMC Article
López-Gómez JJ, Ballesteros-Pomar MD, Torres-Torres B, De la Maza BP, Penacho-Lázaro MÁ, Palacio-Mures JM, Abreu-Padín C, López-Guzmán A, De Luis-Román DA
Clin Nutr 2021 Jan;40(1):237-244. Epub 2020 May 21 doi: 10.1016/j.clnu.2020.05.014. PMID: 32507583
Chatwin M, Simonds AK
Respir Care 2020 Feb;65(2):135-143. Epub 2019 Nov 5 doi: 10.4187/respcare.06882. PMID: 31690614

Therapy

Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Larsson SC, Burgess S
BMC Med 2021 Dec 15;19(1):320. doi: 10.1186/s12916-021-02188-x. PMID: 34906131Free PMC Article
Hurwitz N, Radakovic R, Boyce E, Peryer G
Amyotroph Lateral Scler Frontotemporal Degener 2021 Nov;22(7-8):449-458. Epub 2021 Mar 4 doi: 10.1080/21678421.2021.1892765. PMID: 33661072
Benatar M, Kurent J, Moore DH
Cochrane Database Syst Rev 2009 Jan 21;2009(1):CD006153. doi: 10.1002/14651858.CD006153.pub2. PMID: 19160266Free PMC Article

Prognosis

Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
Li JY, Cui LY, Sun XH, Shen DC, Yang XZ, Liu Q, Liu MS
Ann Clin Transl Neurol 2022 Jul;9(7):1027-1038. Epub 2022 May 18 doi: 10.1002/acn3.51580. PMID: 35584112Free PMC Article
Larsson SC, Burgess S
BMC Med 2021 Dec 15;19(1):320. doi: 10.1186/s12916-021-02188-x. PMID: 34906131Free PMC Article
López-Gómez JJ, Ballesteros-Pomar MD, Torres-Torres B, De la Maza BP, Penacho-Lázaro MÁ, Palacio-Mures JM, Abreu-Padín C, López-Guzmán A, De Luis-Román DA
Clin Nutr 2021 Jan;40(1):237-244. Epub 2020 May 21 doi: 10.1016/j.clnu.2020.05.014. PMID: 32507583
Chatwin M, Simonds AK
Respir Care 2020 Feb;65(2):135-143. Epub 2019 Nov 5 doi: 10.4187/respcare.06882. PMID: 31690614

Clinical prediction guides

Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Li JY, Cui LY, Sun XH, Shen DC, Yang XZ, Liu Q, Liu MS
Ann Clin Transl Neurol 2022 Jul;9(7):1027-1038. Epub 2022 May 18 doi: 10.1002/acn3.51580. PMID: 35584112Free PMC Article
Larsson SC, Burgess S
BMC Med 2021 Dec 15;19(1):320. doi: 10.1186/s12916-021-02188-x. PMID: 34906131Free PMC Article
Chatwin M, Simonds AK
Respir Care 2020 Feb;65(2):135-143. Epub 2019 Nov 5 doi: 10.4187/respcare.06882. PMID: 31690614

Recent systematic reviews

James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Larsson SC, Burgess S
BMC Med 2021 Dec 15;19(1):320. doi: 10.1186/s12916-021-02188-x. PMID: 34906131Free PMC Article
Hurwitz N, Radakovic R, Boyce E, Peryer G
Amyotroph Lateral Scler Frontotemporal Degener 2021 Nov;22(7-8):449-458. Epub 2021 Mar 4 doi: 10.1080/21678421.2021.1892765. PMID: 33661072
GBD 2017 US Neurological Disorders Collaborators, Feigin VL, Vos T, Alahdab F, Amit AML, Bärnighausen TW, Beghi E, Beheshti M, Chavan PP, Criqui MH, Desai R, Dhamminda Dharmaratne S, Dorsey ER, Wilder Eagan A, Elgendy IY, Filip I, Giampaoli S, Giussani G, Hafezi-Nejad N, Hole MK, Ikeda T, Owens Johnson C, Kalani R, Khatab K, Khubchandani J, Kim D, Koroshetz WJ, Krishnamoorthy V, Krishnamurthi RV, Liu X, Lo WD, Logroscino G, Mensah GA, Miller TR, Mohammed S, Mokdad AH, Moradi-Lakeh M, Morrison SD, Shivamurthy VKN, Naghavi M, Nichols E, Norrving B, Odell CM, Pupillo E, Radfar A, Roth GA, Shafieesabet A, Sheikh A, Sheikhbahaei S, Shin JI, Singh JA, Steiner TJ, Stovner LJ, Wallin MT, Weiss J, Wu C, Zunt JR, Adelson JD, Murray CJL
JAMA Neurol 2021 Feb 1;78(2):165-176. doi: 10.1001/jamaneurol.2020.4152. PMID: 33136137Free PMC Article
Benatar M, Kurent J, Moore DH
Cochrane Database Syst Rev 2009 Jan 21;2009(1):CD006153. doi: 10.1002/14651858.CD006153.pub2. PMID: 19160266Free PMC Article

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