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Amyotrophic lateral sclerosis 6, autosomal recessive

MedGen UID:
413027
•Concept ID:
C2750729
•
Disease or Syndrome
Synonym: Amyotrophic Lateral Sclerosis 6, Autosomal Recessive
 
OMIM®: 137070

Professional guidelines

PubMed

Pre-symptomatic diagnosis in ALS.
Corcia P, Lumbroso S, Cazeneuve C, Mouzat K, Camu W, Vourc'h P; on Behalf the FILSLAN network
Rev Neurol (Paris) 2020 Mar;176(3):166-169. Epub 2020 Jan 10 doi: 10.1016/j.neurol.2019.07.027. PMID: 31932031
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, Van den Berg LH
Neurology 2005 Sep 27;65(6):820-5. Epub 2005 Aug 10 doi: 10.1212/01.wnl.0000174472.03292.dd. PMID: 16093455

Recent clinical studies

Etiology

Pre-symptomatic diagnosis in ALS.
Corcia P, Lumbroso S, Cazeneuve C, Mouzat K, Camu W, Vourc'h P; on Behalf the FILSLAN network
Rev Neurol (Paris) 2020 Mar;176(3):166-169. Epub 2020 Jan 10 doi: 10.1016/j.neurol.2019.07.027. PMID: 31932031
Genome-wide estimate of the heritability of Multiple System Atrophy.
Federoff M, Price TR, Sailer A, Scholz S, Hernandez D, Nicolas A, Singleton AB, Nalls M, Houlden H
Parkinsonism Relat Disord 2016 Jan;22:35-41. Epub 2015 Nov 5 doi: 10.1016/j.parkreldis.2015.11.005. PMID: 26589003Free PMC Article
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article
The distal hereditary motor neuropathies.
Rossor AM, Kalmar B, Greensmith L, Reilly MM
J Neurol Neurosurg Psychiatry 2012 Jan;83(1):6-14. Epub 2011 Oct 25 doi: 10.1136/jnnp-2011-300952. PMID: 22028385
ALS2/alsin knockout mice and motor neuron diseases.
Cai H, Shim H, Lai C, Xie C, Lin X, Yang WJ, Chandran J
Neurodegener Dis 2008;5(6):359-66. Epub 2008 Aug 20 doi: 10.1159/000151295. PMID: 18714162Free PMC Article

Diagnosis

Pre-symptomatic diagnosis in ALS.
Corcia P, Lumbroso S, Cazeneuve C, Mouzat K, Camu W, Vourc'h P; on Behalf the FILSLAN network
Rev Neurol (Paris) 2020 Mar;176(3):166-169. Epub 2020 Jan 10 doi: 10.1016/j.neurol.2019.07.027. PMID: 31932031
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH
Brain 2016 Jun;139(Pt 6):1723-34. Epub 2016 Mar 25 doi: 10.1093/brain/aww061. PMID: 27016404Free PMC Article
Genome-wide estimate of the heritability of Multiple System Atrophy.
Federoff M, Price TR, Sailer A, Scholz S, Hernandez D, Nicolas A, Singleton AB, Nalls M, Houlden H
Parkinsonism Relat Disord 2016 Jan;22:35-41. Epub 2015 Nov 5 doi: 10.1016/j.parkreldis.2015.11.005. PMID: 26589003Free PMC Article
SMN1 gene duplications are more frequent in patients with progressive muscular atrophy.
Kuźma-Kozakiewicz M, Jędrzejowska M, Kaźmierczak B
Amyotroph Lateral Scler Frontotemporal Degener 2013 Sep;14(5-6):457-62. Epub 2013 Mar 12 doi: 10.3109/21678421.2013.771367. PMID: 23477310
The distal hereditary motor neuropathies.
Rossor AM, Kalmar B, Greensmith L, Reilly MM
J Neurol Neurosurg Psychiatry 2012 Jan;83(1):6-14. Epub 2011 Oct 25 doi: 10.1136/jnnp-2011-300952. PMID: 22028385

Therapy

The physiological basis of conduction slowing in ALS patients homozygous for the D90A CuZn-SOD mutation.
Weber M, Eisen A, Stewart HG, Andersen PM, Hirota N
Muscle Nerve 2001 Jan;24(1):89-97. doi: 10.1002/1097-4598(200101)24:1<89::aid-mus10>3.0.co;2-i. PMID: 11150970
Beneficial effects of insulin-like growth factor-I on wobbler mouse motoneuron disease.
Hantaï D, Akaaboune M, Lagord C, Murawsky M, Houenou LJ, Festoff BW, Vaught JL, Rieger F, Blondet B
J Neurol Sci 1995 May;129 Suppl:122-6. doi: 10.1016/0022-510x(95)00081-c. PMID: 7595602

Prognosis

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.
Chen X, Liu J, Wei QQ, Ou RW, Cao B, Yuan X, Hou Y, Zhang L, Shang H
BMC Neurol 2020 Jan 3;20(1):2. doi: 10.1186/s12883-019-1593-y. PMID: 31900114Free PMC Article
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.
Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ
Brain Dev 2005 Sep;27(6):443-6. Epub 2004 Dec 15 doi: 10.1016/j.braindev.2004.10.003. PMID: 16122634
Familial childhood primary lateral sclerosis with associated gaze paresis.
Gascon GG, Chavis P, Yaghmour A, Stigsby B, Shums A, Ozand P, Siddique T
Neuropediatrics 1995 Dec;26(6):313-9. doi: 10.1055/s-2007-979781. PMID: 8719747

Clinical prediction guides

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.
Chen X, Liu J, Wei QQ, Ou RW, Cao B, Yuan X, Hou Y, Zhang L, Shang H
BMC Neurol 2020 Jan 3;20(1):2. doi: 10.1186/s12883-019-1593-y. PMID: 31900114Free PMC Article
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH
Brain 2016 Jun;139(Pt 6):1723-34. Epub 2016 Mar 25 doi: 10.1093/brain/aww061. PMID: 27016404Free PMC Article
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article
ALS2/alsin knockout mice and motor neuron diseases.
Cai H, Shim H, Lai C, Xie C, Lin X, Yang WJ, Chandran J
Neurodegener Dis 2008;5(6):359-66. Epub 2008 Aug 20 doi: 10.1159/000151295. PMID: 18714162Free PMC Article
Familial amyotrophic lateral sclerosis.
Siddique T, Hentati A
Clin Neurosci 1995-1996;3(6):338-47. PMID: 9021255

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