Hereditary spastic paraplegia 35
Hereditary spastic paraplegia 35
Definition
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.
Also known as autosomal recessive spastic paraplegia type 35, FA2H hereditary spastic paraplegia, hereditary spastic paraplegia 35, hereditary spastic paraplegia caused by mutation in FA2H, hereditary spastic paraplegia type 35, SPG35 — per MONDO