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posterior column ataxia with retinitis pigmentosa (PCARP)
Pathology:
- degeneration of the posterior columns
- retinitis pigmentosa
- defective neuronal heme transmembrane export due to FLVCR1 mutations may abrogate neuroprotective effects of neuroglobin & initiate an apoptosis
- selective degeneration of photoreceptors in the neurosensory retina & sensory neurons in the posterior spinal cord
Genetics:
- associated with defects in FLVCR1
Clinical manifestations:
- areflexia & retinitis pigmentosa begins in infancy
- nyctalopia (nightblindness) & peripheral visual field loss are usually evident during late childhood or teenage years, with subsequent progressive constriction of the visual fields & loss of central retinal function over time
- degeneration of the posterior columns results in a loss of proprioceptive sensation clinically evident in the 2nd decade of life
- variable features include scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, & a sensory peripheral neuropathy
- no clinical or radiologic evidence of cerebral or cerebellar involvement
Radiology:
- neuroimaging: brain, posterior columns of spinal cord
General
genetic disease
neurologic disease
eye disease (ophthalmopathy)
syndrome
References
- UniProt :accession Q9Y5Y0
- OMIM: 609033