hereditary spastic paraplegia 35
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.
MONDO:0019064
hereditary spastic paraplegia
is_a
FA2H hereditary spastic paraplegia
exact
SPG35
exact
autosomal recessive spastic paraplegia type 35
exact
hereditary spastic paraplegia 35
exact
hereditary spastic paraplegia caused by mutation in FA2H
exact
hereditary spastic paraplegia type 35
exact
spastic paraplegia 35, autosomal recessive
related
SPAC19G12.08