/hereditary spastic paraplegia 44

hereditary spastic paraplegia 44

Rare Disease

MONDO:0013179

Also Known As

GJC2 autosomal recessive complex spastic paraplegiaSPG44autosomal recessive complex spastic paraplegia caused by mutation in GJC2autosomal recessive spastic paraplegia 44hereditary spastic paraplegia type 44autosomal recessive spastic paraplegia type 44spastic paraplegia 44, autosomal recessive

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.