Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis.
<h4>Background</h4>Marcus Gunn jaw-winking synkinesis (MGJWS) is characterized by eyelid ptosis, which disappears during jaw movement. Familial MGJWS is an extremely rare condition. Some authors suggested that MGJWS is due to neural misdirection in the brainstem whereas others suggested...
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2012
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oai:doaj.org-article:bbe124ad6a604f8c9d1a6bec0c70e5842021-11-18T08:04:48ZKinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis.1932-620310.1371/journal.pone.0051749https://doaj.org/article/bbe124ad6a604f8c9d1a6bec0c70e5842012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23284759/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Marcus Gunn jaw-winking synkinesis (MGJWS) is characterized by eyelid ptosis, which disappears during jaw movement. Familial MGJWS is an extremely rare condition. Some authors suggested that MGJWS is due to neural misdirection in the brainstem whereas others suggested that aberrant reinnervation or ephapse may be responsible for synkinetic activity. Pathogenesis of this condition is therefore still unclear.<h4>Methodology/principal findings</h4>To investigate pathogenetic mechanism in familial MGJWS we performed neurophysiological (EMG, Blink Reflex, Recovery cycle of the R2 component of the blink reflex, Masseter inhibitory reflex, BAEPS and kinematic analysis) and neuroradiological (MRI, Diffusion Tensor Imaging) investigations in a member of a multigenerational family with autosomal dominant Marcus Gunn jaw-winking synkinesis (MGJWS). Kinematic analysis of eyelid and jaw movements disclosed a similar onset and offset of the eyelid and jaw in both the opening and closing phases. The excitability of brainstem circuits, as assessed by the blink reflex recovery cycle and recovery index, was normal. Diffusion Tensor Imaging revealed reduced fractional anisotropy within the midbrain tegmentum.<h4>Conclusions/significance</h4>Kinematic and MRI findings point to a brainstem structural abnormality in our familial MGJWS patient thus supporting the hypothesis of a neural misdirection of trigeminal motor axons to the elevator palpebralis muscle.Antonella ConteFrancesco BrancatiFrancesco GaraciNicola ToschiMatteo BolognaGiovanni FabbriniMarika FallaBruno DallapiccolaPatrizio BolleroRoberto FlorisAlfredo BerardelliPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 12, p e51749 (2012) |
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Medicine R Science Q Antonella Conte Francesco Brancati Francesco Garaci Nicola Toschi Matteo Bologna Giovanni Fabbrini Marika Falla Bruno Dallapiccola Patrizio Bollero Roberto Floris Alfredo Berardelli Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. |
| description |
<h4>Background</h4>Marcus Gunn jaw-winking synkinesis (MGJWS) is characterized by eyelid ptosis, which disappears during jaw movement. Familial MGJWS is an extremely rare condition. Some authors suggested that MGJWS is due to neural misdirection in the brainstem whereas others suggested that aberrant reinnervation or ephapse may be responsible for synkinetic activity. Pathogenesis of this condition is therefore still unclear.<h4>Methodology/principal findings</h4>To investigate pathogenetic mechanism in familial MGJWS we performed neurophysiological (EMG, Blink Reflex, Recovery cycle of the R2 component of the blink reflex, Masseter inhibitory reflex, BAEPS and kinematic analysis) and neuroradiological (MRI, Diffusion Tensor Imaging) investigations in a member of a multigenerational family with autosomal dominant Marcus Gunn jaw-winking synkinesis (MGJWS). Kinematic analysis of eyelid and jaw movements disclosed a similar onset and offset of the eyelid and jaw in both the opening and closing phases. The excitability of brainstem circuits, as assessed by the blink reflex recovery cycle and recovery index, was normal. Diffusion Tensor Imaging revealed reduced fractional anisotropy within the midbrain tegmentum.<h4>Conclusions/significance</h4>Kinematic and MRI findings point to a brainstem structural abnormality in our familial MGJWS patient thus supporting the hypothesis of a neural misdirection of trigeminal motor axons to the elevator palpebralis muscle. |
| format |
article |
| author |
Antonella Conte Francesco Brancati Francesco Garaci Nicola Toschi Matteo Bologna Giovanni Fabbrini Marika Falla Bruno Dallapiccola Patrizio Bollero Roberto Floris Alfredo Berardelli |
| author_facet |
Antonella Conte Francesco Brancati Francesco Garaci Nicola Toschi Matteo Bologna Giovanni Fabbrini Marika Falla Bruno Dallapiccola Patrizio Bollero Roberto Floris Alfredo Berardelli |
| author_sort |
Antonella Conte |
| title |
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. |
| title_short |
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. |
| title_full |
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. |
| title_fullStr |
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. |
| title_full_unstemmed |
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. |
| title_sort |
kinematic and diffusion tensor imaging definition of familial marcus gunn jaw-winking synkinesis. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/bbe124ad6a604f8c9d1a6bec0c70e584 |
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