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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
16 signs/symptoms
Spinocerebellar ataxia type 29
Juvenile primary lateral sclerosis

ITPR1 ALS2
ERLIN2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ITPR1
(0.73)
ERLIN2



Citations in the biomedical literature:


Spinocerebellar ataxia type 29
ITPR1
Juvenile primary lateral sclerosis
ALS2 ERLIN2



Spinocerebellar ataxia type 29
Juvenile primary lateral sclerosis

Synonym(s):
- Congenital nonprogressive spinocerebellar ataxia
- SCA29

Synonym(s):
- JPLS
- Juvenile PLS

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
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 -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536416

Juvenile primary lateral sclerosis

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


Spinocerebellar ataxia type 29

(no data available)