Spiral analysis in Niemann-Pick disease type C

Authors

  • Annie W. Hsu BA,

    1. Department of Neurology, Clinical Motor Physiology Laboratory, Columbia University Medical Center, New York, New York, USA
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  • Panida A. Piboolnurak MD,

    1. Department of Neurology, Clinical Motor Physiology Laboratory, Columbia University Medical Center, New York, New York, USA
    2. Department of Neurology, Parkinson's Disease and Movement Disorder Institute, Weill Medical College of Cornell University, New York, New York, USA
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  • Alicia G. Floyd BA,

    1. Department of Neurology, Clinical Motor Physiology Laboratory, Columbia University Medical Center, New York, New York, USA
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  • Qiping P. Yu PhD,

    1. Department of Neurology, Clinical Motor Physiology Laboratory, Columbia University Medical Center, New York, New York, USA
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  • James E. Wraith MB, ChB, FRCPCH,

    1. Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, United Kingdom
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  • Marc C. Patterson MD,

    1. Department of Genetics, Mayo Clinic, Rochester, Minnesota, USA
    2. Department of Pediatric Neurology, Mayo Clinic, Rochester, Minnesota, USA
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  • Seth L. Pullman MD

    Corresponding author
    1. Department of Neurology, Clinical Motor Physiology Laboratory, Columbia University Medical Center, New York, New York, USA
    • The Neurological Institute, 710 West 168th Street, New York, NY 10032, USA
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  • Potential conflict of interest: Study supported in part by a grant from Actelion Pharmaceuticals (OGT 918-007). The spiral analysis test used in this report was patented by Columbia University with a potential commercial product in development.

Abstract

Spiral analysis is a computerized method of analyzing upper limb motor physiology through the quantification of spiral drawing. The objective of this study was to determine whether spirals drawn by patients with Niemann-Pick disease type C (NPC) could be distinguished from those of controls, and to physiologically characterize movement abnormalities in NPC. Spiral data consisting of position, pressure, and time were collected from 14 NPC patients and 14 age-matched controls, and were analyzed by the Mann-Whitney U test. NPC spirals were characterized by: lower speed (2.67 vs. 9.56 cm/s, P < 0.001) and acceleration (0.10 vs. 2.04 cm/s2, P < 0.001), higher loop width variability (0.88 vs. 0.28, P < 0.001), tremor (5/10 vs. 0/10 trials in the dominant hand, P < 0.001), and poor overall spiral rating (2.53 vs. 0.70, P < 0.005). NPC spirals also exhibited sustained drawing pressure profiles that were abnormally invariant with time. Other features, such as the tightness of loop widths, were normal. Our findings reveal that differing aspects of tremor, Parkinsonism, ataxia, and dystonia are quantifiable in NPC patients. © 2009 Movement Disorder Society

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