New spastin mutation discovered

Gene analysis should be considered for patients with spastic paraplegia even in the absence of any family history.

  Neurological examination at aged 52 revealed spastic paraplegia, generalized hyperreflexia, decreased of vibration sense in the lower limbs, and pollakisuria. Ocular symptoms, deafness, cerebellar ataxia, extrapyramidal signs, mental deterioration, dementia, peripheral neuropathy, retinal pigment degeneration, ichthyosis and syndactyly were absent.  MRI of the brain was normal.  A pure form of hereditary spastic paraplegia was diagnosed.

Brain Nerve. 2008 Feb;60(2):187-9.