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Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome?

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Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome? / Ganos, Christos; Biskup, Saskia; Krüger, Stefanie; Meyer-Osores, Aracelli; Hodecker, Sibylle; Hagel, Christian; Schöls, Ludger; Bhatia, Kailash P; Münchau, Alexander.

In: PARKINSONISM RELAT D, Vol. 20, No. 3, 2014, p. 328-31.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Ganos, C, Biskup, S, Krüger, S, Meyer-Osores, A, Hodecker, S, Hagel, C, Schöls, L, Bhatia, KP & Münchau, A 2014, 'Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome?', PARKINSONISM RELAT D, vol. 20, no. 3, pp. 328-31. https://doi.org/10.1016/j.parkreldis.2013.11.011

APA

Ganos, C., Biskup, S., Krüger, S., Meyer-Osores, A., Hodecker, S., Hagel, C., Schöls, L., Bhatia, K. P., & Münchau, A. (2014). Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome? PARKINSONISM RELAT D, 20(3), 328-31. https://doi.org/10.1016/j.parkreldis.2013.11.011

Vancouver

Ganos C, Biskup S, Krüger S, Meyer-Osores A, Hodecker S, Hagel C et al. Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome? PARKINSONISM RELAT D. 2014;20(3):328-31. https://doi.org/10.1016/j.parkreldis.2013.11.011

Bibtex

@article{5f20d7d76ecc4a94a507a9d55816be0e,
title = "Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome?",
abstract = "BACKGROUND: Dystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus.METHODS: Detailed clinical data were collected over two decades in the female (index) patient and for nine years in her similarly affected son. Sanger sequencing followed by exome sequencing was performed.RESULTS: Both patients had leg onset generalized dystonia with gradual rostral spread including prominent facial and oro-mandibular involvement. The index patient was anarthric, her son aphonic. Both had saccadic slowing, more marked for the horizontal plane, and subclinical epileptic activity. The index patient also had photic myoclonus and a combined axonal and demyelinating neuropathy. Known genetic causes of similar syndromes were not identified.CONCLUSION: These cases with caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement, severe speech impairment, marked slowing of horizontal saccades, and photic myoclonus likely represent a novel entity.",
author = "Christos Ganos and Saskia Biskup and Stefanie Kr{\"u}ger and Aracelli Meyer-Osores and Sibylle Hodecker and Christian Hagel and Ludger Sch{\"o}ls and Bhatia, {Kailash P} and Alexander M{\"u}nchau",
note = "Copyright {\textcopyright} 2013 Elsevier Ltd. All rights reserved.",
year = "2014",
doi = "10.1016/j.parkreldis.2013.11.011",
language = "English",
volume = "20",
pages = "328--31",
journal = "PARKINSONISM RELAT D",
issn = "1353-8020",
publisher = "Elsevier BV",
number = "3",

}

RIS

TY - JOUR

T1 - Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome?

AU - Ganos, Christos

AU - Biskup, Saskia

AU - Krüger, Stefanie

AU - Meyer-Osores, Aracelli

AU - Hodecker, Sibylle

AU - Hagel, Christian

AU - Schöls, Ludger

AU - Bhatia, Kailash P

AU - Münchau, Alexander

N1 - Copyright © 2013 Elsevier Ltd. All rights reserved.

PY - 2014

Y1 - 2014

N2 - BACKGROUND: Dystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus.METHODS: Detailed clinical data were collected over two decades in the female (index) patient and for nine years in her similarly affected son. Sanger sequencing followed by exome sequencing was performed.RESULTS: Both patients had leg onset generalized dystonia with gradual rostral spread including prominent facial and oro-mandibular involvement. The index patient was anarthric, her son aphonic. Both had saccadic slowing, more marked for the horizontal plane, and subclinical epileptic activity. The index patient also had photic myoclonus and a combined axonal and demyelinating neuropathy. Known genetic causes of similar syndromes were not identified.CONCLUSION: These cases with caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement, severe speech impairment, marked slowing of horizontal saccades, and photic myoclonus likely represent a novel entity.

AB - BACKGROUND: Dystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus.METHODS: Detailed clinical data were collected over two decades in the female (index) patient and for nine years in her similarly affected son. Sanger sequencing followed by exome sequencing was performed.RESULTS: Both patients had leg onset generalized dystonia with gradual rostral spread including prominent facial and oro-mandibular involvement. The index patient was anarthric, her son aphonic. Both had saccadic slowing, more marked for the horizontal plane, and subclinical epileptic activity. The index patient also had photic myoclonus and a combined axonal and demyelinating neuropathy. Known genetic causes of similar syndromes were not identified.CONCLUSION: These cases with caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement, severe speech impairment, marked slowing of horizontal saccades, and photic myoclonus likely represent a novel entity.

U2 - 10.1016/j.parkreldis.2013.11.011

DO - 10.1016/j.parkreldis.2013.11.011

M3 - SCORING: Journal article

C2 - 24359844

VL - 20

SP - 328

EP - 331

JO - PARKINSONISM RELAT D

JF - PARKINSONISM RELAT D

SN - 1353-8020

IS - 3

ER -