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References OMIM Gene GeneReviews HGMD HGNC
last update : 01-12-2010
Symbol AXPC1
Location 1q31-q32.3
HGNC id 906
Name ataxia, posterior column with retinitis pigmentosa
Other name(s) posterior column ataxia with retinitis pigmentosa
Corresponding gene FLVCR1
Other symbol(s) PCA, PCARP
Main clinical features
  • onset in childhood, with concentric contraction of the visual fields and proprioceptive loss, by the third decade, blindness, with severe sensory ataxia, achalasia, scoliosis, and inanition (weakness and wasting), sensory nerve conduction velocities were absent, and MRI showed hyperintense signals in the spinal cord
  • sensory ganglionopathy causing a harmonious degeneration of central and peripheral axons without evidence of primary demyelination (PMID: 21070897))
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease