MCID: PRM195
MIFTS: 30

Primary Lateral Sclerosis, Juvenile

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Primary Lateral Sclerosis, Juvenile

MalaCards integrated aliases for Primary Lateral Sclerosis, Juvenile:

Name: Primary Lateral Sclerosis, Juvenile 57 53 25 13
Juvenile Primary Lateral Sclerosis 76 53 25 59 75 37 29 6
Jpls 53 25 59 75
Juvenile Pls 25 59
Plsj 57 25
Sclerosis, Lateral, Juvenile Primary 40
Primary Lateral Sclerosis Juvenile 73
Pls, Juvenile 57
Pls Juvenile 53

Characteristics:

Orphanet epidemiological data:

59
juvenile primary lateral sclerosis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM:

57
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:

32
primary lateral sclerosis, juvenile:
Onset and clinical course childhood onset slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 606353
Orphanet 59 ORPHA247604
MESH via Orphanet 45 C536416
UMLS via Orphanet 74 C1853396
ICD10 via Orphanet 34 G12.2
MedGen 42 C1853396
MeSH 44 D016472
KEGG 37 H00970
UMLS 73 C1853396

Summaries for Primary Lateral Sclerosis, Juvenile

OMIM : 57 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 brain cancer and lateral sclerosis, and has symptoms including upper motor neuron signs An important gene associated with Primary Lateral Sclerosis, Juvenile is ALS2 (ALS2, Alsin Rho Guanine Nucleotide Exchange Factor). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are muscle weakness and hyperreflexia

Genetics Home Reference : 25 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 : 53 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 : 75 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 : 76 Juvenile primary lateral sclerosis (JPLS) , also known as primary lateral sclerois (PLSJ), is a rare... 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 brain cancer 10.0
2 lateral sclerosis 9.8
3 hereditary spastic paraplegia 9.0 ALS2 ERLIN2

Symptoms & Phenotypes for Primary Lateral Sclerosis, Juvenile

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
spastic gait
spastic tetraparesis
spastic dysarthria
extensor plantar responses
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

Human phenotypes related to Primary Lateral Sclerosis, Juvenile:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
2 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
5 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
6 sensory neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000763
7 gait imbalance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002141
8 abnormality of the bladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0000014
9 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
10 spastic tetraparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001285
11 loss of speech 59 32 frequent (33%) Frequent (79-30%) HP:0002371
12 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
13 abnormal upper motor neuron morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002127
14 pseudobulbar behavioral symptoms 59 32 hallmark (90%) Very frequent (99-80%) HP:0002193
15 spasticity 59 Very frequent (99-80%)
16 babinski sign 32 HP:0003487
17 cerebral cortical atrophy 32 HP:0002120
18 saccadic smooth pursuit 32 HP:0001152
19 difficulty in tongue movements 32 HP:0000183
20 spasticity of pharyngeal muscles 32 HP:0002501
21 spasticity of facial muscles 32 HP:0002491

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 29 ALS2

Anatomical Context for Primary Lateral Sclerosis, Juvenile

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

41
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

Variations for Primary Lateral Sclerosis, Juvenile

ClinVar genetic disease variations for Primary Lateral Sclerosis, Juvenile:

6
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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