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

More general terms

• genetic disease
• neurologic disease
• eye disease (ophthalmopathy)
• syndrome