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Hereditary spastic paraplegia 44
rareA 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.
- Identifiers
- MONDO:0013179 OMIM:613206Orphanet:320401
- Causal genes
- GJC2
- Also known as
- autosomal recessive complex spastic paraplegia caused by mutation in GJC2 · GJC2 autosomal recessive complex spastic paraplegia · hereditary spastic paraplegia type 44 · spastic paraplegia 44, autosomal recessive · SPG44
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