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All in the blink of an eye: new insight into cerebellar and brainstem function in DYT 1 and DYT 6 dystonia
Author(s) -
Sadnicka A.,
Teo J. T.,
Kojovic M.,
Pareés I.,
Saifee T. A.,
Kassavetis P.,
Schwingenschuh P.,
KatschnigWinter P.,
Stamelou M.,
Mencacci N. E.,
Rothwell J. C.,
Edwards M. J.,
Bhatia K. P.
Publication year - 2015
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.12521
Subject(s) - medicine , brainstem , neuroscience , dystonia , psychology , psychiatry
Background and purpose Traditionally dystonia has been considered a disorder of basal ganglia dysfunction. However, recent research has advocated a more complex neuroanatomical network. In particular, there is increasing interest in the pathophysiological role of the cerebellum. Patients with cervical and focal hand dystonia have impaired cerebellar associative learning using the paradigm eyeblink conditioning. This is perhaps the most direct evidence to date that the cerebellum is implicated in patients. Methods Eleven patients with DYT 1 dystonia and five patients with DYT 6 dystonia were examined and rates of eyeblink conditioning were compared with age‐matched controls. A marker of brainstem excitability, the blink reflex recovery, was also studied in the same groups. Results Patients with DYT 1 and DYT 6 dystonia have a normal ability to acquire conditioned responses. Blink reflex recovery was enhanced in DYT 1 but this effect was not seen in DYT 6. Conclusions If the cerebellum is an important driver in DYT 1 and DYT 6 dystonia our data suggest that there is specific cerebellar dysfunction such that the circuits essential for conditioning function normally. Our data are contrary to observations in focal dystonia and suggest that the cerebellum may have a distinct role in different subsets of dystonia. Evidence of enhanced blink reflex recovery in all patients with dystonia was not found and recent studies calling for the blink recovery reflex to be used as a diagnostic test for dystonic tremor may require further corroboration.