Hereditary spastic paraplegia 44

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: GJC2 autosomal recessive complex spastic paraplegia, SPG44, autosomal recessive complex spastic paraplegia caused by mutation in GJC2, hereditary spastic paraplegia type 44, autosomal recessive spastic paraplegia type 44, spastic paraplegia 44, autosomal recessive

2 clinical trials for this condition and its sub-types, 0 tagged with Hereditary spastic paraplegia 44 itself.