Hereditary spastic paraplegia 4

Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.

Also known as: SPAST hereditary spastic paraplegia, SPG4, autosomal dominant spastic paraplegia type 4, hereditary spastic paraplegia 4, hereditary spastic paraplegia caused by mutation in SPAST, hereditary spastic paraplegia type 4, FSP2, familial spastic paraplegia autosomal dominant 2

2 clinical trials for this condition and its sub-types.