Panel básico de paraparesia espástica
[8 genes]
ATL1 | CYP7B1 | KIF5A | REEP1 |
SPAST | SPG11 | SPG7 | ZFYVE26 |
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- Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol. 2014 Nov;261:518-39.
- Ruano L, Melo C, Silva MC, Coutinho P. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014;42(3):174-83.
- Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M et al. SPATAX consortium. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain. 2008 Mar;131(Pt 3):772-84.