Details of Disease

General Information of Disease (ID: DISKDZC9)

Disease Name Juvenile amyotrophic lateral sclerosis
Synonyms amyotrophic lateral sclerosis, juvenile; juvenile Lou Gehrig disease; juvenile Charcot disease; JALS
Definition
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISKDZC9: Juvenile amyotrophic lateral sclerosis
Disease Identifiers
MONDO ID
MONDO_0017593
UMLS CUI
C3468114
MedGen ID
923704
Orphanet ID
300605
SNOMED CT ID
718555006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLEC4C TT7YT06 Limited Genetic Variation [1]
FUS TTKGYZ9 Supportive Autosomal recessive [2]
SIGMAR1 TT5TPI6 Supportive Autosomal recessive [3]
SIGMAR1 TT5TPI6 Strong Genetic Variation [4]
FUS TTKGYZ9 Definitive Genetic Variation [5]
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This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALS2 OT8BAM04 Supportive Autosomal recessive [6]
FUS OTPPNGQO Supportive Autosomal recessive [2]
SIGMAR1 OTDORW5C Supportive Autosomal recessive [3]
SPG11 OTZ7LJX4 Supportive Autosomal recessive [7]
SETX OTG3JNOQ moderate Genetic Variation [8]
BSCL2 OT73V6Y4 Strong Biomarker [9]
C19orf12 OTVSJ1AR Strong Genetic Variation [10]
DDX19A OTBTDR44 Strong Genetic Variation [11]
DDX46 OTB2X9TO Strong Genetic Variation [11]
DHX16 OTW8KZAU Strong Genetic Variation [11]
GARS1 OT5B6R9Y Strong Biomarker [9]
STRADB OTUSF1A0 Strong Biomarker [12]
TRAK2 OTXVA7FN Strong Biomarker [12]
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⏷ Show the Full List of 13 DOT(s)

References

1 CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis.Oncotarget. 2016 May 3;7(18):24942-9. doi: 10.18632/oncotarget.7886.
2 P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis. Neuromuscul Disord. 2012 Jan;22(1):73-5. doi: 10.1016/j.nmd.2011.08.003. Epub 2011 Sep 9.
3 A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol. 2011 Dec;70(6):913-9. doi: 10.1002/ana.22534. Epub 2011 Aug 12.
4 Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS.EMBO Mol Med. 2016 Dec 1;8(12):1421-1437. doi: 10.15252/emmm.201606403. Print 2016 Dec.
5 Clinical and Genetic Features of Patients with Juvenile Amyotrophic Lateral Sclerosis with Fused in Sarcoma (FUS) Mutation.Med Sci Monit. 2018 Dec 3;24:8750-8757. doi: 10.12659/MSM.913724.
6 A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):470-2. doi: 10.3109/21678421.2012.756036. Epub 2013 Jan 3.
7 Amyotrophic lateral sclerosis: an update on recent genetic insights. J Neurol. 2013 Nov;260(11):2917-27. doi: 10.1007/s00415-013-7112-y. Epub 2013 Oct 2.
8 A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis.Brain Behav. 2018 Sep;8(9):e01066. doi: 10.1002/brb3.1066. Epub 2018 Jul 27.
9 Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.Brain. 2000 Aug;123 ( Pt 8):1612-23. doi: 10.1093/brain/123.8.1612.
10 C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.J Neurol. 2012 Nov;259(11):2434-9. doi: 10.1007/s00415-012-6521-7. Epub 2012 May 15.
11 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet. 2004 Jun;74(6):1128-35. doi: 10.1086/421054. Epub 2004 Apr 21.
12 Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.Genomics. 2001 Jan 15;71(2):200-13. doi: 10.1006/geno.2000.6392.