hereditary spastic paraplegia 44
Findings
No curated finding names hereditary spastic paraplegia 44 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.
Definition from the Mondo Disease Ontology (MONDO:0013179), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- 3 of 3 reported patients
- CNS hypomyelinationHPOHP:0003429
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- 3 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GJC2HGNC:17494
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: hereditary spastic paraplegia 44
- Also called
- autosomal recessive complex spastic paraplegia caused by mutation in GJC2GJC2 autosomal recessive complex spastic paraplegiahereditary spastic paraplegia type 44SPG44