Spiral analysis in Niemann‐Pick disease type C

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

[1]  P. Viviani,et al.  A developmental study of the relationship between geometry and kinematics in drawing movements. , 1991, Journal of experimental psychology. Human perception and performance.

[2]  D. Manzoni,et al.  The cerebellum may implement the appropriate coupling of sensory inputs and motor responses: Evidence from vestibular physiology , 2008, The Cerebellum.

[3]  Hilla Peretz,et al.  Ju n 20 03 Schrödinger ’ s Cat : The rules of engagement , 2003 .

[4]  E D Louis,et al.  Validation of a portable instrument for assessing tremor severity in epidemiologic field studies , 2000, Movement disorders : official journal of the Movement Disorder Society.

[5]  K. Josephs,et al.  Adult onset Niemann-Pick disease type C presenting with psychosis , 2003, Journal of neurology, neurosurgery, and psychiatry.

[6]  Domenico Restuccia,et al.  Cerebellar damage impairs detection of somatosensory input changes. A somatosensory mismatch-negativity study. , 2006, Brain : a journal of neurology.

[7]  D. Cogan,et al.  Clinical spectrum of Niemann‐Pick disease type C , 1989, Neurology.

[8]  R. Elble,et al.  Primary writing tremor. A form of focal dystonia? , 1990, Movement disorders : official journal of the Movement Disorder Society.

[9]  J. Phillips.  Can the relationship between tangential velocity and radius of curvature explain motor constancy? , 2008, Human movement science.

[10]  W. S. Garver,et al.  The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system. , 2002, Current molecular medicine.

[11]  P. Viviani,et al.  The relation between linear extent and velocity in drawing movements , 1983, Neuroscience.

[12]  M. Patterson,et al.  Kinematic analysis of motor dysfunction in Niemann-Pick type C , 2007, Clinical Neurophysiology.

[13]  H. Ninomiya,et al.  [Niemann-Pick disease type C]. , 2001, Nihon rinsho. Japanese journal of clinical medicine.

[14]  N. Baumann,et al.  The adult form of Niemann-Pick disease type C. , 2006, Brain : a journal of neurology.

[15]  A. Wing,et al.  Relation between velocity and curvature in movement: equivalence and divergence between a power law and a minimum-jerk model. , 1988, Journal of experimental psychology. Human perception and performance.

[16]  R A Heath,et al.  Spiral drawing performance as an indicator of fine motor function in people with multiple sclerosis. , 2006, Human movement science.

[17]  R. Hawkes,et al.  Patterned Purkinje cell degeneration in mouse models of Niemann‐Pick type C disease , 2003, The Journal of comparative neurology.

[18]  H. C. Diener,et al.  The Relevance of Sensory Input for the Cerebellar Control of Movements , 1997, NeuroImage.

[19]  Shouyan Wang,et al.  Quantifying drug-induced dyskinesias in the arms using digitised spiral-drawing tasks , 2005, Journal of Neuroscience Methods.

[20]  M. Patterson,et al.  Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study , 2007, The Lancet Neurology.

[21]  E. Bézard,et al.  Toward a primate model of l‐dopa‐unresponsive parkinsonism mimicking striatonigral degeneration , 2000, Movement Disorders.

[22]  Alexander Münchau,et al.  How to assess motor impairment in writer's cramp , 2007, Movement disorders : official journal of the Movement Disorder Society.

[23]  Peter Feys,et al.  Digitised spirography as an evaluation tool for intention tremor in multiple sclerosis , 2007, Journal of Neuroscience Methods.

[24]  P. Viviani,et al.  The law relating the kinematic and figural aspects of drawing movements. , 1983, Acta psychologica.

[25]  S L Pullman,et al.  Spiral Analysis: A New Technique for Measuring Tremor With a Digitizing Tablet , 2008, Movement disorders : official journal of the Movement Disorder Society.

[26]  M. Patterson,et al.  The pathophysiology and mechanisms of NP-C disease. , 2004, Biochimica et biophysica acta.

[27]  Rajesh Pahwa,et al.  Reduced Purkinje cell number in essential tremor: a postmortem study. , 2008, Archives of neurology.

[28]  H. Forssberg,et al.  Lighter or Heavier Than Predicted: Neural Correlates of Corrective Mechanisms during Erroneously Programmed Lifts , 2006, The Journal of Neuroscience.

[29]  M. Patterson.  A Riddle Wrapped in a Mystery: Understanding Niemann-Pick Disease, Type C , 2003, The neurologist.

[30]  T. Flash,et al.  Minimum-jerk, two-thirds power law, and isochrony: converging approaches to movement planning. , 1995, Journal of experimental psychology. Human perception and performance.

[31]  K. Lyons,et al.  Neuropathological changes in essential tremor: 33 cases compared with 21 controls. , 2007, Brain : a journal of neurology.

[32]  R. Lipton,et al.  Validity of spiral analysis in early Parkinson's disease , 2008, Movement disorders : official journal of the Movement Disorder Society.

[33]  L. Kurlowicz,et al.  The Mini Mental State Examination (MMSE). , 1999, Director.