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Juvenile primary lateral sclerosis
1 OMIM reference -
2 associated genes
28 connected diseases
16 signs/symptoms
Disease Type of connection
Autosomal recessive spastic paraplegia type 18
Infantile-onset ascending hereditary spastic paralysis
Juvenile amyotrophic lateral sclerosis
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Fibronectin glomerulopathy
22q11.2 deletion syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autosomal agammaglobulinemia
CLN3 disease
Congenital bilateral absence of vas deferens
Cystic fibrosis
Early-onset autosomal dominant Alzheimer disease
Familial isolated dilated cardiomyopathy
Familial renal cell carcinoma
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Male infertility with normal virilization due to meiosis defect
Precursor B-cell acute lymphoblastic leukemia
Spastic paraplegia - Paget disease of bone
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Spinocerebellar ataxia type 26
Synonym(s):
- JPLS
- Juvenile PLS
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536416
Gene symbol UniProt reference OMIM reference
ALS2 Q96Q42606352
ERLIN2 O94905611605
Very frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Motor deficit / trouble
- Muscle weakness / flaccidity
- Pseudobulbar signs / spasmodic laugh and cry
- Pyramidal syndrome

Frequent
- Elocution disorders / dysarthria / dysphonia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Bladder and ureter anomalies
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Sensitive trouble / deficit