Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability
Version of Record online: 16 JAN 2008
Copyright © 2008 Movement Disorder Society
Volume 23, Issue 5, pages 751–755, 15 April 2008
How to Cite
Fasano, A., Colosimo, C., Miyajima, H., Tonali, P. A., Re, T. J. and Bentivoglio, A. R. (2008), Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability. Mov. Disord., 23: 751–755. doi: 10.1002/mds.21938
- Issue online: 24 APR 2008
- Version of Record online: 16 JAN 2008
- Manuscript Accepted: 6 DEC 2007
- Manuscript Revised: 29 NOV 2007
- Manuscript Received: 3 MAY 2007
- Università Cattolica del Sacro Cuore. Grant Number: linea D1
This article includes supplementary video clips, available online at http://www.interscience.wiley.com/jpages/0885-3185/suppmat .
|mds21938.mpg||14210K||Segment 1. The 56-year-old proband, 8 years after the onset of neurological symptoms, is incapable of standing and walking and shows apathy and facial hypomimia. Moreover, he is affected by irregular postural, kinetic, and resting tremor of the upper limbs as evaluated while maintaining antigravity posture, the finger-nose-finger test, and at rest. It is also evident dystonic posture of the right hand and bradykinesia during the finger tap test. Segment 2. The 53-year-old proband's sister has evident neurological abnormalities limited to mild akinetic signs (facial hypomimia, reduced right arm swing during walking).|
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