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Case Reports in Neurological Medicine
Volume 2017, Article ID 3247034, 6 pages
Case Report

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

1Neurology Clinics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
2Clinical Genetics Clinic, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
3European University Cyprus, Nicosia, Cyprus
4Retrophin Inc., New York, NY, USA

Correspondence should be addressed to Kleopas A. Kleopa;

Received 24 November 2016; Revised 2 March 2017; Accepted 12 March 2017; Published 16 April 2017

Academic Editor: Isabella Laura Simone

Copyright © 2017 Yiolanda-Panayiota Christou et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Supplementary Material

Legend to Supplementary video: Timed 25 foot gait test before starting treatment (first part) and 2 weeks afterwards (second part). In the initial test the patient is walking behind his mother holding onto her shoulders with both hands for support. He starts with small steps leaning greatly forwards and placing weight on toes, then gradually takes bigger steps with foot placement in contact with the floor. In the second test he walks behind his father without any support and with faster steps. He maintains good upright posture achieving good foot placement with the sole of the foot in contact with the floor with some dystonia still present, more so in the right foot.

Supplementary Figure 1: postulated mechanism and chemical structure of fosmetpantotenate.

  1. Supplementary Material