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 53 49 24 13
Juvenile Primary Lateral Sclerosis 72 49 24 55 71 36 28
Jpls 49 24 55 71
Juvenile Pls 24 55
Plsj 53 24
Primary Lateral Sclerosis Juvenile 69
Pls, Juvenile 53
Pls Juvenile 49

Characteristics:

Orphanet epidemiological data:

55
juvenile primary lateral sclerosis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM:

53
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:

31
primary lateral sclerosis, juvenile:
Onset and clinical course childhood onset slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 606353
Orphanet 55 ORPHA247604
MESH via Orphanet 42 C536416
UMLS via Orphanet 70 C1853396
ICD10 via Orphanet 33 G12.2
MedGen 39 C1853396
MeSH 41 D016472
KEGG 36 H00970
UMLS 69 C1853396

Summaries for Primary Lateral Sclerosis, Juvenile

OMIM : 53 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 amyotrophic lateral sclerosis 2, juvenile and brain cancer, and has symptoms including muscle weakness, pseudobulbar behavioral symptoms and abnormal pyramidal 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.

Genetics Home Reference : 24 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 : 49 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. Last updated: 3/4/2011

UniProtKB/Swiss-Prot : 71 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.

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 amyotrophic lateral sclerosis 2, juvenile 9.9
2 brain cancer 9.9
3 lateral sclerosis 9.8
4 hereditary spastic paraplegia 9.4 ALS2 ERLIN2

Symptoms & Phenotypes for Primary Lateral Sclerosis, Juvenile

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
upper motor neuron signs
hyperreflexia
spastic tetraparesis
spastic gait
spastic dysarthria
more
Head And Neck Mouth:
difficulty in tongue movements

Head And Neck Face:
spasticity of the facial muscles

Abdomen Gastroin testinal:
dysphagia

Head And Neck Eyes:
saccadic smooth pursuit

Neurologic Peripheral Nervous System:
no sensory abnormalities


Clinical features from OMIM:

606353

Human phenotypes related to Primary Lateral Sclerosis, Juvenile:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 pseudobulbar behavioral symptoms 55 31 hallmark (90%) Very frequent (99-80%) HP:0002193
3 abnormal pyramidal signs 55 31 hallmark (90%) Very frequent (99-80%) HP:0007256
4 hyperreflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001347
5 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
6 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
7 sensory neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000763
8 gait imbalance 55 31 hallmark (90%) Very frequent (99-80%) HP:0002141
9 abnormality of the bladder 55 31 occasional (7.5%) Occasional (29-5%) HP:0000014
10 spastic tetraparesis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001285
11 spastic gait 55 31 hallmark (90%) Very frequent (99-80%) HP:0002064
12 loss of speech 55 31 frequent (33%) Frequent (79-30%) HP:0002371
13 abnormal upper motor neuron morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0002127
14 spastic dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0002464
15 spasticity 55 Very frequent (99-80%)
16 babinski sign 31 HP:0003487
17 cerebral cortical atrophy 31 HP:0002120
18 difficulty in tongue movements 31 HP:0000183
19 saccadic smooth pursuit 31 HP:0001152
20 spasticity of pharyngeal muscles 31 HP:0002501
21 spasticity of facial muscles 31 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 28 ALS2

Anatomical Context for Primary Lateral Sclerosis, Juvenile

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

38
Brain, Spinal Cord, Tongue, Cortex, Skeletal Muscle

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.1619G> A (p.Gly540Glu) single nucleotide variant Pathogenic rs386134178 GRCh37 Chromosome 2, 202619247: 202619247
2 ALS2 NM_020919.3(ALS2): c.1867_1868delCT (p.Leu623Valfs) deletion Pathogenic rs386134181 GRCh37 Chromosome 2, 202611419: 202611420
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.2980-2A> G single nucleotide variant Pathogenic rs386134184 GRCh37 Chromosome 2, 202591591: 202591591

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 complex GO:0043234 8.62 ALS2 ERLIN2

Sources for Primary Lateral Sclerosis, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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