DISEASE: Spastic paraplegia, optic atrophy, and neuropathy
Entry
H02114 Disease
Name
Spastic paraplegia, optic atrophy, and neuropathy
Description
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder clinically defined by congenital optic atrophy, progressive spastic paraplegia with onset in infancy, and progressive motor and sensory axonal neuropathy. A mutation in KLC2 gene has been reported to be responsible for the SPOAN phenotype.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Spinal cord disorders excluding trauma
8B44 Degenerative myelopathic disorders
H02114 Spastic paraplegia, optic atrophy, and neuropathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06541 Cytoskeleton in neurons
H02114 Spastic paraplegia, optic atrophy, and neuropathy
Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavacana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M
Title
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
