Hutchinson M1,2, Isa T3, Molloy A1,2, Kimmich O1,2, Williams L1,2, Butler JS9, Molloy F4, Moore H5, Healy DG6, Lynch T7, Walsh C8, Reilly RB9Walsh R10O’Riordan S1,2

 

Front Neurol. 2014 Apr 28;5:54. doi: 10.3389/fneur.2014.00054. eCollection 2014. Review.

 

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ABSTRACT:


 

While the pathogenesis of cervical dystonia remains unknown, recent animal and clinical experimental studies have indicated its probable mechanisms. Abnormal temporal discrimination is a mediational endophenotype of cervical dystonia and informs new concepts of disease pathogenesis. Our hypothesis is that both abnormal temporal discrimination and cervical dystonia are due to a disorder of the midbrain network for covert attentional orienting caused by reduced gamma-aminobutyric acid (GABA) inhibition, resulting, in turn, from as yet undetermined, genetic mutations. Such disinhibition is (a) subclinically manifested by abnormal temporal discrimination due to prolonged duration firing of the visual sensory neurons in the superficial laminae of the superior colliculus and (b) clinically manifested by cervical dystonia due to disinhibited burst activity of the cephalomotor neurons of the intermediate and deep laminae of the superior colliculus. Abnormal temporal discrimination in unaffected first-degree relatives of patients with cervical dystonia represents a subclinical manifestation of defective GABA activity both within the superior colliculus and from the substantia nigra pars reticulata. A number of experiments are required to prove or disprove this hypothesis.

 


 

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Copyright: © 2014 Hutchinson, Isa, Molloy, Kimmich, Williams, Molloy, Moore, Healy, Lynch, Walsh, Butler, Reilly, Walsh and O’Riordan. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.