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Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?

      In this issue of Parkinsonism and Related Disorders, Prilop et al. describe a man who had started to experience difficulties with handwriting during school age, developed gait difficulty at age 19, and required a wheelchair at age 42. Oromandibular musculature was involved severely and the patient had become unable to speak; there was upper limb dystonia, blepharospasm, Parkinsonian signs that were mildly responsive to levodopa, and ataxia. The patient died at age 54 years. This patient also had bilateral keratoconus - progressive thinning and ectasia of the cornea - manifest already at 6 years of age, requiring corneal transplantation as a young adult [
      • Prilop L.
      • Buchert R.
      • Woerz S.
      • Gerloff C.
      • Haack T.B.
      • Zittel S.
      IRF2BPL Mutation Causes Nigrostriatal Degeneration Presenting with Dystonia, Spasticity and Keratoconus.
      ].
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