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Congenital Mirror Movements in a New Italian Family
Author(s) -
Fasano Alfonso,
Bologna Matteo,
Iezzi Ennio,
Pavone Luigi,
Srour Myriam,
Di Biasio Francesca,
Grillea Giovanni,
Rouleau Guy A.,
Levert Annie,
Sebastiano Fabio,
Colonnese Claudio,
Berardelli Alfredo
Publication year - 2014
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12066
Subject(s) - neuroimaging , transcranial magnetic stimulation , neuroscience , neurophysiology , psychology , corticospinal tract , medicine , magnetic resonance imaging , stimulation , diffusion mri , radiology
Mirror movements ( MM s) occur on the contralateral side of a limb being used intentionally. Because few families with congenital MM s and no other neurological signs have been reported, the underlying mechanisms of MM s are still not entirely clear. We report on the clinical, genetic, neurophysiological and neuroimaging findings of 10 of 26 living members of a novel four‐generation family with congenital MM s. DCC and RAD 51 were sequenced in affected members of the family. Five of the ten subjects with MM s underwent neurophysiological and neuroimaging evaluations. The neurophysiological evaluation consisted of electromyographic ( EMG) mirror recordings, investigations of corticospinal excitability, and analysis of interhemispheric inhibition using transcranial magnetic stimulation techniques. The neuroimaging evaluation included functional MRI during finger movements. Eight (all females) of the ten members examined presented MM s of varying degrees at the clinical assessment. Transmission of MM s appears to have occurred according to an autosomal‐dominant fashion with variable expression. No mutation in DCC or RAD 51 was identified. EMG mirror activity was higher in MM subjects than in healthy controls. Short‐latency interhemispheric inhibition was reduced in MM subjects. Ipsilateral motor‐evoked potentials were detectable in the most severe case. The neuroimaging evaluation did not disclose any significant abnormalities in MM subjects. The variability of the clinical features of this family, and the lack of known genetic abnormalities, suggests that MM s are heterogeneous disorders. The pathophysiological mechanisms of MM s include abnormalities of transcallosal inhibition and corticospinal decussation.