Novel <i>SGCE</i> gene mutation in a Korean patient with myoclonus–dystonia with unique phenotype mimicking Moya–Moya disease

Chung, Eun Joo; Lee, Won Yong; Kim, Ji-Youn; Kim, Jong-Hun; Kim, Gyeong-Moon; Ki, Chang Seok; Kim, In-Suk

doi:10.1002/mds.21093

Cited by 14 publications

(11 citation statements)

References 5 publications

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“…This case together with other recent reports collectively demonstrates that DYT11 patients are distributed worldwide, including Asia [2–6]. Thus, DYT11 should be considered as a differential diagnosis when clinicians encounter a patient with childhood-onset myoclonus and/or dystonia with psychiatric symptoms, regardless of ethnic background.…”

Section: Discussionsupporting

confidence: 52%

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An Asian Patient with Myoclonus-Dystonia (DYT11) Responsive to Deep Brain Stimulation of the Globus Pallidus Internus

Uruha

Kimura

Okiyama

2014

Case Reports in Neurological Medicine

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We describe the case of a 42-year-old Japanese woman with childhood-onset myoclonus, dystonia, and psychiatric symptoms, including anxiety, phobia, and exaggerated startle response. The diagnosis was confirmed as myoclonus-dystonia (DYT11) by identifying a mutation in the gene encoding ε-sarcoglycan. Interestingly, while motor-related symptoms in DYT11 generally improve with alcohol ingestion, the patient's symptoms were exacerbated by alcohol intake. Her severe and medically intractable symptoms were alleviated by bilateral deep brain stimulation of the globus pallidus internus, with myoclonus and dystonia scores showing 70% improvement after the surgery compared to presurgical scores. This is the first report of a genetically confirmed case of DYT11 in Japan. This paper together with other recent reports collectively demonstrates that DYT11 patients are distributed worldwide, including Asia. Thus, a diagnosis of DYT11 should be considered when clinicians encounter a patient with childhood-onset myoclonus and/or dystonia with psychiatric symptoms, regardless of ethnic background.

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Section: Discussionsupporting

confidence: 52%

“…The psychiatric symptoms are variable, including anxiety, obsessive-compulsive behaviors, and depression. While many patients with DYT11 have been described in Caucasian population, only a few cases have been reported from other populations [2–6]. Here, we describe the first Japanese patient with genetically confirmed DYT11.…”

Section: Introductionmentioning

confidence: 85%

An Asian Patient with Myoclonus-Dystonia (DYT11) Responsive to Deep Brain Stimulation of the Globus Pallidus Internus

Uruha

Kimura

Okiyama

2014

Case Reports in Neurological Medicine

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“…There are no prevalence studies of M‐D, because of its rarity. However, M‐D seems to exist worldwide, with cases in families of various origins, including Europe, South America,24, 44 North America, and Asia 44, 45…”

Section: Clinical Spectrum Of M‐d Syndromementioning

confidence: 99%

Myoclonus‐dystonia: An update

et al. 2009

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Our knowledge of the clinical, neurophysiological, and genetic aspects of myoclonus-dystonia (M-D) has improved markedly in the recent years. Basic research has provided new insights into the complex dysfunctions involved in the pathogenesis of M-D. On the basis of a comprehensive literature search, this review summarizes current knowledge on M-D, with a focus on recent findings. We also propose modified diagnostic criteria and recommendations for clinical management.

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“…Although the great majority of M-D patients do not have epilepsy, there have been previous reports on seizures in M-D patients (Tab. 1), and a causal association has been discussed [8][9][10][11][12]. This is supported by the findings of altered membrane excitability in M-D patients in neurophysiological studies [13,14].…”

mentioning

confidence: 62%

Myoclonus-dystonia (DYT11, DYT-SGCE) — a channelopathy?

Wictorin

Puschmann

2020

Neurol Neurochir Pol.

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Introduction. Kaczyńska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. Further, patients had mild psychiatric and developmental deficits. Clinical reflections. Characteristic motor features of M-D include myoclonus, dystonia and tremor. A wide range of additional disease manifestations are known. A few patients with M-D have seizures. Clinical implications. Altered neuronal excitability has been found in the pathogenesis of M-D. This may explain the partial effectiveness of antiepileptics and a lower seizure threshold, and could encourage trials of other membrane stabilisers. Careful clinical observations of seemingly well-known diseases remain important.

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Novel SGCE gene mutation in a Korean patient with myoclonus–dystonia with unique phenotype mimicking Moya–Moya disease

Cited by 14 publications

References 5 publications

An Asian Patient with Myoclonus-Dystonia (DYT11) Responsive to Deep Brain Stimulation of the Globus Pallidus Internus

An Asian Patient with Myoclonus-Dystonia (DYT11) Responsive to Deep Brain Stimulation of the Globus Pallidus Internus

Myoclonus‐dystonia: An update

Myoclonus-dystonia (DYT11, DYT-SGCE) — a channelopathy?

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