JPLS
MCID: PRM195
MIFTS: 31

Primary Lateral Sclerosis, Juvenile (JPLS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Lateral Sclerosis, Juvenile

MalaCards integrated aliases for Primary Lateral Sclerosis, Juvenile:

Name: Primary Lateral Sclerosis, Juvenile 58 54 26 13
Juvenile Primary Lateral Sclerosis 77 54 26 60 76 38 30 6
Jpls 54 26 60 76
Juvenile Pls 26 60
Plsj 58 26
Sclerosis, Lateral, Juvenile Primary 41
Primary Lateral Sclerosis Juvenile 74
Pls, Juvenile 58
Pls Juvenile 54

Characteristics:

Orphanet epidemiological data:

60
juvenile primary lateral sclerosis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in early childhood
allelic disorder to infantile-onset ascending spastic paralysis (iahsp, )
allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, )


HPO:

33
primary lateral sclerosis, juvenile:
Onset and clinical course childhood onset slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 606353
KEGG 38 H00970
MeSH 45 D016472
MESH via Orphanet 46 C536416
ICD10 via Orphanet 35 G12.2
UMLS via Orphanet 75 C1853396
Orphanet 60 ORPHA247604
MedGen 43 C1853396
UMLS 74 C1853396

Summaries for Primary Lateral Sclerosis, Juvenile

OMIM : 58 Although primary lateral sclerosis is similar to amyotrophic lateral sclerosis (ALS; 105400), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear and diagnostic criteria established (Pringle et al., 1992). PLS is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas ALS is a more severe disorder characterized by degeneration of both the upper and lower motor neurons. A diagnosis of PLS is essentially one of exclusion (Sotaniemi and Myllyla, 1985; Younger et al., 1988; Yang et al., 2001). (606353)

MalaCards based summary : Primary Lateral Sclerosis, Juvenile, also known as juvenile primary lateral sclerosis, is related to triiodothyronine receptor auxiliary protein and brain cancer, and has symptoms including upper motor neuron signs An important gene associated with Primary Lateral Sclerosis, Juvenile is ALS2 (Alsin Rho Guanine Nucleotide Exchange Factor ALS2). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are muscle weakness and hyperreflexia

Genetics Home Reference : 26 Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.

NIH Rare Diseases : 54 Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progress over a period of 15 to 20 years. Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. It is inherited in an autosomal recessive pattern.

UniProtKB/Swiss-Prot : 76 Juvenile primary lateral sclerosis: A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected.

Wikipedia : 77 Juvenile primary lateral sclerosis , also known as primary lateral sclerosis (PLSJ), is a rare genetic... more...

Related Diseases for Primary Lateral Sclerosis, Juvenile

Diseases in the Lateral Sclerosis family:

Primary Lateral Sclerosis, Juvenile Primary Lateral Sclerosis, Adult, 1

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

# Related Disease Score Top Affiliating Genes
1 triiodothyronine receptor auxiliary protein 10.1
2 brain cancer 10.1
3 lateral sclerosis 9.9
4 spastic paraplegia 18 9.9
5 hereditary spastic paraplegia 9.5 ALS2 ERLIN2

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



Diseases related to Primary Lateral Sclerosis, Juvenile

Symptoms & Phenotypes for Primary Lateral Sclerosis, Juvenile

Human phenotypes related to Primary Lateral Sclerosis, Juvenile:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
3 abnormal pyramidal sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0007256
4 gait imbalance 60 33 hallmark (90%) Very frequent (99-80%) HP:0002141
5 spastic gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002064
6 spastic tetraparesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001285
7 abnormal upper motor neuron morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002127
8 pseudobulbar behavioral symptoms 60 33 hallmark (90%) Very frequent (99-80%) HP:0002193
9 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
10 loss of speech 60 33 frequent (33%) Frequent (79-30%) HP:0002371
11 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
12 skeletal muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003202
13 sensory neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000763
14 abnormality of the bladder 60 33 occasional (7.5%) Occasional (29-5%) HP:0000014
15 spasticity 60 Very frequent (99-80%)
16 pallor 33 HP:0000980
17 babinski sign 33 HP:0003487
18 cerebral cortical atrophy 33 HP:0002120
19 saccadic smooth pursuit 33 HP:0001152
20 difficulty in tongue movements 33 HP:0000183
21 spasticity of pharyngeal muscles 33 HP:0002501
22 spasticity of facial muscles 33 HP:0002491

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
spastic gait
spastic tetraparesis
spastic dysarthria
upper motor neuron signs
more
Head And Neck Eyes:
saccadic smooth pursuit

Head And Neck Face:
spasticity of the facial muscles

Abdomen Gastrointestinal:
dysphagia

Head And Neck Mouth:
difficulty in tongue movements

Neurologic Peripheral Nervous System:
no sensory abnormalities

Clinical features from OMIM:

606353

UMLS symptoms related to Primary Lateral Sclerosis, Juvenile:


upper motor neuron signs

Drugs & Therapeutics for Primary Lateral Sclerosis, Juvenile

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

Genetic Tests for Primary Lateral Sclerosis, Juvenile

Genetic tests related to Primary Lateral Sclerosis, Juvenile:

# Genetic test Affiliating Genes
1 Juvenile Primary Lateral Sclerosis 30 ALS2

Anatomical Context for Primary Lateral Sclerosis, Juvenile

MalaCards organs/tissues related to Primary Lateral Sclerosis, Juvenile:

42
Brain, Spinal Cord, Tongue, Skeletal Muscle, Cortex

Publications for Primary Lateral Sclerosis, Juvenile

Articles related to Primary Lateral Sclerosis, Juvenile:

# Title Authors Year
1
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. ( 23109145 )
2012
2
A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family. ( 19122027 )
2009
3
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. ( 11586297 )
2001
4
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. ( 11586298 )
2001
5
Genetic inroads in familial ALS. ( 11586285 )
2001
6
Infantile onset of hereditary ascending spastic paralysis with bulbar involvement. ( 8745388 )
1996

Variations for Primary Lateral Sclerosis, Juvenile

ClinVar genetic disease variations for Primary Lateral Sclerosis, Juvenile:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALS2 NM_020919.3(ALS2): c.1867_1868delCT (p.Leu623Valfs) deletion Pathogenic rs386134181 GRCh37 Chromosome 2, 202611419: 202611420
2 ALS2 NM_020919.3(ALS2): c.1867_1868delCT (p.Leu623Valfs) deletion Pathogenic rs386134181 GRCh38 Chromosome 2, 201746696: 201746697
3 ALS2 NM_020919.3(ALS2): c.1425_1426delAG (p.Glu476Glyfs) deletion Pathogenic rs386134176 GRCh37 Chromosome 2, 202622170: 202622171
4 ALS2 NM_020919.3(ALS2): c.1425_1426delAG (p.Glu476Glyfs) deletion Pathogenic rs386134176 GRCh38 Chromosome 2, 201757447: 201757448
5 ALS2 NM_020919.3(ALS2): c.2980-2A> G single nucleotide variant Pathogenic rs386134184 GRCh37 Chromosome 2, 202591591: 202591591
6 ALS2 NM_020919.3(ALS2): c.2980-2A> G single nucleotide variant Pathogenic rs386134184 GRCh38 Chromosome 2, 201726868: 201726868
7 ALS2 NM_020919.3(ALS2): c.1619G> A (p.Gly540Glu) single nucleotide variant Pathogenic rs386134178 GRCh37 Chromosome 2, 202619247: 202619247
8 ALS2 NM_020919.3(ALS2): c.1619G> A (p.Gly540Glu) single nucleotide variant Pathogenic rs386134178 GRCh38 Chromosome 2, 201754524: 201754524
9 ALS2 NM_020919.3(ALS2): c.1115C> G (p.Pro372Arg) single nucleotide variant Uncertain significance rs190369242 GRCh37 Chromosome 2, 202622481: 202622481
10 ALS2 NM_020919.3(ALS2): c.1115C> G (p.Pro372Arg) single nucleotide variant Uncertain significance rs190369242 GRCh38 Chromosome 2, 201757758: 201757758
11 ALS2 NM_020919.3(ALS2): c.1233T> G (p.Tyr411Ter) single nucleotide variant Pathogenic rs369577952 GRCh37 Chromosome 2, 202622363: 202622363
12 ALS2 NM_020919.3(ALS2): c.1233T> G (p.Tyr411Ter) single nucleotide variant Pathogenic rs369577952 GRCh38 Chromosome 2, 201757640: 201757640
13 ALS2 NM_020919.3(ALS2): c.3134A> T (p.Lys1045Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 201726712: 201726712
14 ALS2 NM_020919.3(ALS2): c.3134A> T (p.Lys1045Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 202591435: 202591435

Expression for Primary Lateral Sclerosis, Juvenile

Search GEO for disease gene expression data for Primary Lateral Sclerosis, Juvenile.

Pathways for Primary Lateral Sclerosis, Juvenile

GO Terms for Primary Lateral Sclerosis, Juvenile

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 8.62 ALS2 ERLIN2

Sources for Primary Lateral Sclerosis, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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