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Autosomal recessive spastic paraplegia type 44

Synonym(s) SPG44
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Adolescent
  • G11.4
  • C2750784
MeSH -
MedDRA -


Disease definition

Autosomal recessive spastic paraplegia type 44 (SPG44) is 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.

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