Ramsay Hunt Syndrome: Clinical Characterization of Progressive Myoclonus Ataxia Caused by GOSR2 Mutation

Martje E. van Egmond; Cornelia Verschuuren - Bemelmans; Esther A. Nibbeling; Jan Willem J. Elting; Deborah A. Sival; Oebele F. Brouwer; Jeroen J. de Vries; Hubertus P. Kremer; Richard J. Sinke; Marina A. Tijssen; Tom J. de Koning

doi:10.1002/mds.25704

Ramsay Hunt Syndrome: Clinical Characterization of Progressive Myoclonus Ataxia Caused by GOSR2 Mutation

Martje E. van Egmond
, Cornelia Verschuuren - Bemelmans
, Esther A. Nibbeling
, Jan Willem J. Elting
, Deborah A. Sival
, Oebele F. Brouwer
, Jeroen J. de Vries
, Hubertus P. Kremer
, Richard J. Sinke
, Marina A. Tijssen^*
, Tom J. de Koning

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

47 Citations (Scopus)

Abstract

BACKGROUND: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.

METHODS: We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia.

RESULTS: All 5 patients had the same homozygous mutation in GOSR2. Here we present their clinical and neurophysiological data. Our patients (aged 7-26 years) all originated from the northern Netherlands and showed a remarkably homogeneous phenotype. Myoclonus and ataxia were relentlessly progressive over the years. Electromyography revealed signs of sensory neuronopathy or anterior horn cell involvement, or both, in all patients with absent reflexes.

CONCLUSIONS: Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.

Original language	English
Pages (from-to)	139-143
Number of pages	5
Journal	Movement Disorders
Volume	29
Issue number	1
DOIs	https://doi.org/10.1002/mds.25704
Publication status	Published - Jan-2014

Keywords

Ramsay Hunt
progressive myoclonus ataxia
GOSR2 mutation
myoclonus
ataxia

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Ramsay Hunt Syndrome Clinical Characterization of Progressive Myoclonus Ataxia Caused
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van Egmond, M. E., Verschuuren - Bemelmans, C., Nibbeling, E. A., Elting, J. W. J., Sival, D. A., Brouwer, O. F., de Vries, J. J., Kremer, H. P., Sinke, R. J., Tijssen, M. A., & de Koning, T. J. (2014). Ramsay Hunt Syndrome: Clinical Characterization of Progressive Myoclonus Ataxia Caused by GOSR2 Mutation. Movement Disorders, 29(1), 139-143. https://doi.org/10.1002/mds.25704

@article{1c44ed52d5454090b547b82cc96a1825,

title = "Ramsay Hunt Syndrome: Clinical Characterization of Progressive Myoclonus Ataxia Caused by GOSR2 Mutation",

abstract = "BACKGROUND: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.METHODS: We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia.RESULTS: All 5 patients had the same homozygous mutation in GOSR2. Here we present their clinical and neurophysiological data. Our patients (aged 7-26 years) all originated from the northern Netherlands and showed a remarkably homogeneous phenotype. Myoclonus and ataxia were relentlessly progressive over the years. Electromyography revealed signs of sensory neuronopathy or anterior horn cell involvement, or both, in all patients with absent reflexes.CONCLUSIONS: Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.",

keywords = "Ramsay Hunt, progressive myoclonus ataxia, GOSR2 mutation, myoclonus, ataxia",

author = "\{van Egmond\}, \{Martje E.\} and \{Verschuuren - Bemelmans\}, Cornelia and Nibbeling, \{Esther A.\} and Elting, \{Jan Willem J.\} and Sival, \{Deborah A.\} and Brouwer, \{Oebele F.\} and \{de Vries\}, \{Jeroen J.\} and Kremer, \{Hubertus P.\} and Sinke, \{Richard J.\} and Tijssen, \{Marina A.\} and \{de Koning\}, \{Tom J.\}",

note = "Copyright {\textcopyright} 2013 Movement Disorder Society.",

year = "2014",

month = jan,

doi = "10.1002/mds.25704",

language = "English",

volume = "29",

pages = "139--143",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "Wiley",

number = "1",

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T1 - Ramsay Hunt Syndrome

T2 - Clinical Characterization of Progressive Myoclonus Ataxia Caused by GOSR2 Mutation

AU - van Egmond, Martje E.

AU - Verschuuren - Bemelmans, Cornelia

AU - Nibbeling, Esther A.

AU - Elting, Jan Willem J.

AU - Sival, Deborah A.

AU - Brouwer, Oebele F.

AU - de Vries, Jeroen J.

AU - Kremer, Hubertus P.

AU - Sinke, Richard J.

AU - Tijssen, Marina A.

AU - de Koning, Tom J.

PY - 2014/1

Y1 - 2014/1

N2 - BACKGROUND: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.METHODS: We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia.RESULTS: All 5 patients had the same homozygous mutation in GOSR2. Here we present their clinical and neurophysiological data. Our patients (aged 7-26 years) all originated from the northern Netherlands and showed a remarkably homogeneous phenotype. Myoclonus and ataxia were relentlessly progressive over the years. Electromyography revealed signs of sensory neuronopathy or anterior horn cell involvement, or both, in all patients with absent reflexes.CONCLUSIONS: Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.

AB - BACKGROUND: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.METHODS: We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia.RESULTS: All 5 patients had the same homozygous mutation in GOSR2. Here we present their clinical and neurophysiological data. Our patients (aged 7-26 years) all originated from the northern Netherlands and showed a remarkably homogeneous phenotype. Myoclonus and ataxia were relentlessly progressive over the years. Electromyography revealed signs of sensory neuronopathy or anterior horn cell involvement, or both, in all patients with absent reflexes.CONCLUSIONS: Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.

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KW - progressive myoclonus ataxia

KW - GOSR2 mutation

KW - myoclonus

KW - ataxia

U2 - 10.1002/mds.25704

DO - 10.1002/mds.25704

M3 - Article

C2 - 24458321

SN - 0885-3185

VL - 29

SP - 139

EP - 143

JO - Movement Disorders

JF - Movement Disorders

IS - 1

ER -

Ramsay Hunt Syndrome: Clinical Characterization of Progressive Myoclonus Ataxia Caused by GOSR2 Mutation

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