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.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
GJC2 autosomal recessive complex spastic paraplegia
exact
SPG44
exact
autosomal recessive complex spastic paraplegia caused by mutation in GJC2
exact
hereditary spastic paraplegia type 44
exact
spastic paraplegia 44, autosomal recessive
related