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GENATLAS PHENOTYPE
last update : 08/01/2013
Symbol SPG55
Location 12q24.31
HGNC id 26784
Name spastic paraplegia type 55
Other name(s) spastic paraplegia with optic atrophy and neuropathy
Corresponding gene c12orf65
Main clinical features
  • spastic paraplegia with optic atrophy and neuropathy PMID: 23188110
  • early onset spastic paraplegia variably associated with reduced visual acuity (with central scotoma and optic atrophy), reduced upper extremity strength and dexterity, lower extremity muscle atrophy, and motor-sensory neuropathy
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    eye
    neurology
    Type disease
    Gene product
    Name info chromosome 12 open reading frame 65
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     c.394C>T, p.R132X This mutation resulted in marked reduction of mitochondrial protein synthesis, followed by functional and structural defects in respiratory complexes I and IV PMID:23188110
    Remark(s)