(2) Pronounced peripheral motor and sensory neuropathy begins in infancy, and the disease progresses centrally with cognitive impairment, seizures and
pyramidal tract signs. (1) Patients become wheelchair bound in the second decade and eventually bedridden with severe polyneuropathy, ataxia and dementia.
A neurological evaluation revealed bilateral
pyramidal tract signs, cerebellar ataxia, and severe visual impairment (0.01/0.3), with a central scotoma in the right eye (Figure 1(b)).
(3) In classic PKAN the symptoms usually start to appear before age 6 on average around age 3 with profound dystonia, dysarthria, spasticity and
pyramidal tract signs and pigmentary retinopathy leading to night blindness and visual field constriction.
[19] Other neurological manifestations include
pyramidal tract signs, sensory deficits, involuntary movements and cerebellar ataxia.