Hereditary spastic paraplegia 44
Hereditary spastic paraplegia 44
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.
Also known as autosomal recessive complex spastic paraplegia caused by mutation in GJC2, GJC2 autosomal recessive complex spastic paraplegia, hereditary spastic paraplegia type 44, SPG44 — per MONDO