JALS
MCID: JVN050
MIFTS: 36

Juvenile Amyotrophic Lateral Sclerosis (JALS)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Juvenile Amyotrophic Lateral Sclerosis

MalaCards integrated aliases for Juvenile Amyotrophic Lateral Sclerosis:

Name: Juvenile Amyotrophic Lateral Sclerosis 52 58 29 6
Juvenile Lou Gehrig Disease 52 58
Juvenile Charcot Disease 52 58
Jals 52 58
Amyotrophic Lateral Sclerosis, Juvenile 52

Characteristics:

Orphanet epidemiological data:

58
juvenile amyotrophic lateral sclerosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood; Age of death: adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G12.2
Orphanet 58 ORPHA300605

Summaries for Juvenile Amyotrophic Lateral Sclerosis

NIH Rare Diseases : 52 Juvenile amyotrophic lateral sclerosis (JALS) is a rare motor neuron disease characterized by progressive degeneration of upper and lower motor neurons. Motor neurons are nerve cells that control voluntary muscle activity. Symptoms of JALS typically begin before age 25, but often in early childhood. Symptoms include facial spasticity , dysarthria , and a spastic gait (manner of walking). Some people have uncontrolled laughter and weeping, mild wasting of the legs and hands, bladder dysfunction, and/or sensory disturbances. The disease is usually slowly progressive but rate of progression varies. People with JALS may become unable to move by age 12 to age 50. JALS includes several subtypes, distinguished by the specific variations (mutations ) in any of several genes , including: ALS2 caused by mutations in the ALS2 gene ALS16 caused by mutations in the SIGMAR1 gene ALS5 caused by mutations in the SPG11 gene ALS4 caused by mutation in the SETX gene There are some reports of JALS caused by mutations in the UBQLN2 (related to ALS15), FUS (related to ALS6) and TARDBP (related to ALS10) genes. Mutations may be inherited from a parent or may occur for the first time in a person with the disease. Inheritance may be autosomal recessive or autosomal dominant depending on the gene involved. There is no specific treatment for JALS. Management generally involves physical and occupational therapy to promote mobility and independence.

MalaCards based summary : Juvenile Amyotrophic Lateral Sclerosis, also known as juvenile lou gehrig disease, is related to amyotrophic lateral sclerosis 2, juvenile and amyotrophic lateral sclerosis 4, juvenile. An important gene associated with Juvenile Amyotrophic Lateral Sclerosis is FUS (FUS RNA Binding Protein). Affiliated tissues include brain and liver, and related phenotypes are gait disturbance and abnormal pyramidal sign

Related Diseases for Juvenile Amyotrophic Lateral Sclerosis

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22
Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Juvenile Amyotrophic Lateral Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 2, juvenile 33.3 C2CD6 ALS2
2 amyotrophic lateral sclerosis 4, juvenile 32.5 SPG11 SETX FUS ALS2
3 amyotrophic lateral sclerosis 16, juvenile 32.4 SPG11 SIGMAR1 SETX FUS ALS2
4 amyotrophic lateral sclerosis 1 30.3 SPG11 SIGMAR1 SETX FUS ALS2
5 muscular atrophy 30.0 VRK1 SIGMAR1 SETX PLEKHG5 FUS
6 spinal muscular atrophy 29.7 VRK1 SIGMAR1 SETX PLEKHG5 FUS
7 paraplegia 29.6 SPG11 ERLIN1 C19orf12
8 lateral sclerosis 29.6 TRPM7 SPG11 SIGMAR1 SETX FUS C2CD6
9 motor neuron disease 29.3 SYNE1 SIGMAR1 SETX PLEKHG5 FUS ERLIN1
10 dystonia 28.5 SETX FUS C19orf12 ALS2
11 charcot-marie-tooth disease 28.5 SYNE1 SPG11 SETX PLEKHG5 FUS ALS2
12 hereditary spastic paraplegia 28.1 SPG11 SETX PLEKHG5 ERLIN1 C19orf12 ALS2
13 amyotrophic lateral sclerosis, juvenile, with dementia 12.4
14 amyotrophic lateral sclerosis 5, juvenile 11.9
15 als2-related disorders 10.4
16 arteriosclerosis 10.3
17 genetic motor neuron disease 10.3 SETX PLEKHG5
18 neuronopathy, distal hereditary motor, type i 10.2
19 primary lateral sclerosis, adult, 1 10.2
20 neurodegeneration with brain iron accumulation 10.2
21 respiratory failure 10.2
22 liposarcoma 10.2
23 mitochondrial membrane protein-associated neurodegeneration 10.2
24 spinocerebellar ataxia, autosomal recessive 8 10.2 SYNE1 SETX
25 progressive bulbar palsy 10.1 FUS ALS2
26 autosomal recessive distal hereditary motor neuronopathy 10.1 SETX ALS2
27 arteries, anomalies of 10.1
28 atherosclerosis susceptibility 10.1
29 leprosy 3 10.1
30 androgen insensitivity, partial 10.1
31 asthma 10.1
32 hyperlipoproteinemia, type iii 10.1
33 lipoprotein quantitative trait locus 10.1
34 testicular cancer 10.1
35 coronary stenosis 10.1
36 alopecia areata 10.1
37 alopecia 10.1
38 germ cells tumors 10.1
39 hansen's disease 10.1
40 nonseminomatous germ cell tumor 10.1
41 mixed germ cell tumor 10.1
42 hemolytic disease due to fetomaternal alloimmunization 10.1
43 epithelial recurrent erosion dystrophy 10.0
44 spinal muscular atrophy, type i 10.0
45 3-methylglutaconic aciduria, type iii 10.0
46 hereditary motor and sensory neuropathy v 10.0
47 autoimmune lymphoproliferative syndrome 10.0
48 branchiootic syndrome 1 10.0
49 spastic paraplegia 11, autosomal recessive 10.0
50 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.0

Graphical network of the top 20 diseases related to Juvenile Amyotrophic Lateral Sclerosis:



Diseases related to Juvenile Amyotrophic Lateral Sclerosis

Symptoms & Phenotypes for Juvenile Amyotrophic Lateral Sclerosis

Human phenotypes related to Juvenile Amyotrophic Lateral Sclerosis:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
3 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
4 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
6 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
7 abnormal upper motor neuron morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002127
8 amyotrophic lateral sclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007354
9 decreased muscle mass 58 31 frequent (33%) Frequent (79-30%) HP:0003199
10 pseudobulbar behavioral symptoms 58 31 frequent (33%) Frequent (79-30%) HP:0002193
11 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
12 abnormality of the bladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0000014

Drugs & Therapeutics for Juvenile Amyotrophic Lateral Sclerosis

Search Clinical Trials , NIH Clinical Center for Juvenile Amyotrophic Lateral Sclerosis

Genetic Tests for Juvenile Amyotrophic Lateral Sclerosis

Genetic tests related to Juvenile Amyotrophic Lateral Sclerosis:

# Genetic test Affiliating Genes
1 Juvenile Amyotrophic Lateral Sclerosis 29

Anatomical Context for Juvenile Amyotrophic Lateral Sclerosis

MalaCards organs/tissues related to Juvenile Amyotrophic Lateral Sclerosis:

40
Brain, Liver

Publications for Juvenile Amyotrophic Lateral Sclerosis

Articles related to Juvenile Amyotrophic Lateral Sclerosis:

(show top 50) (show all 99)
# Title Authors PMID Year
1
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 6 61
26556829 2016
2
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. 6 61
24562058 2014
3
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. 6 61
21842496 2011
4
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. 6 61
20110243 2010
5
Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. 6 61
16240357 2005
6
ALS2-Related Disorders 61 6
20301421 2005
7
Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. 6 61
2328408 1990
8
The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis. 52 61
28429524 2017
9
In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia. 6
26205306 2015
10
The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis. 6
25704016 2015
11
De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. 61 52
23046859 2013
12
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 6
18332254 2008
13
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 6
18067136 2007
14
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. 6
17717710 2007
15
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 6
17322883 2007
16
Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. 6
16321985 2006
17
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 6
11586297 2001
18
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
19
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 6
7920663 1994
20
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. 52
28716533 2017
21
A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis. 61
32501131 2020
22
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations. 61
32383541 2020
23
Distinct Regulation of σ1 Receptor Multimerization by Its Agonists and Antagonists in Transfected Cells and Rat Liver Membranes. 61
32060048 2020
24
A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment. 61
32022482 2020
25
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11. 61
31900114 2020
26
Clinical and Genetic Features of Patients with Juvenile Amyotrophic Lateral Sclerosis with Fused in Sarcoma (FUS) Mutation. 61
30507891 2018
27
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. 61
30128655 2018
28
A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis. 61
30052327 2018
29
SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family. 61
30079398 2018
30
A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis. 61
28335620 2017
31
Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS. 61
27821430 2016
32
Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis. 61
27671242 2016
33
CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis. 61
26943047 2016
34
De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. 61
27123482 2016
35
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis. 61
27999540 2016
36
Juvenile amyotrophic lateral sclerosis: Classical wine glass sign on magnetic resonance imaging. 61
27195035 2016
37
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. 61
26751646 2016
38
Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11. 61
27066562 2015
39
Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. 61
25192599 2015
40
Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan. 61
24694197 2014
41
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. 61
24315819 2014
42
Alsin related disorders: literature review and case study with novel mutations. 61
25302125 2014
43
A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias. 61
25474699 2014
44
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis. 61
23282280 2013
45
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. 61
22584950 2012
46
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. 61
23109145 2012
47
Are alsin and spartin novel interaction partners? 61
22982304 2012
48
Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. 61
22057404 2012
49
Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis. 61
22248478 2012
50
Exome sequencing reveals SPG11 mutations causing juvenile ALS. 61
22154821 2012

Variations for Juvenile Amyotrophic Lateral Sclerosis

ClinVar genetic disease variations for Juvenile Amyotrophic Lateral Sclerosis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLEKHG5 NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter)SNV Pathogenic 873314 1:6530920-6530920 1:6470860-6470860
2 SYNE1 NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter)SNV Pathogenic 873271 6:152497632-152497632 6:152176497-152176497
3 SYNE1 NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter)SNV Pathogenic 873270 6:152527392-152527392 6:152206257-152206257
4 ERLIN1 NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala)SNV Pathogenic 873226 10:101937913-101937913 10:100178156-100178156
5 FUS NM_004960.4(FUS):c.1577A>G (p.Tyr526Cys)SNV Pathogenic 873234 16:31202755-31202755 16:31191434-31191434
6 FUS NM_004960.3(FUS):c.1574C>T (p.Pro525Leu)SNV Pathogenic 280110 rs886041390 16:31202752-31202752 16:31191431-31191431
7 PLEKHG5 NM_020631.6(PLEKHG5):c.1889C>A (p.Pro630His)SNV Likely pathogenic 873315 1:6529648-6529648 1:6469588-6469588
8 VRK1 NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)SNV Conflicting interpretations of pathogenicity 209205 rs772731615 14:97326965-97326965 14:96860628-96860628
9 TRPM7 NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)SNV Uncertain significance 4807 rs8042919 15:50878630-50878630 15:50586433-50586433

Expression for Juvenile Amyotrophic Lateral Sclerosis

Search GEO for disease gene expression data for Juvenile Amyotrophic Lateral Sclerosis.

Pathways for Juvenile Amyotrophic Lateral Sclerosis

GO Terms for Juvenile Amyotrophic Lateral Sclerosis

Cellular components related to Juvenile Amyotrophic Lateral Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear outer membrane GO:0005640 8.96 SYNE1 SIGMAR1
2 growth cone GO:0030426 8.8 SIGMAR1 SETX ALS2

Sources for Juvenile Amyotrophic Lateral Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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