Analysis of stimuli triggering attacks of paroxysmal dystonia induced by exertion

Bu, Meyer; Irlbacher, Kerstin; Meierkord, Hartmut

doi:10.1136/jnnp.70.2.247

Cited by 13 publications

(3 citation statements)

References 19 publications

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“…These PKDs were triggered by changing of clothes or diapers or by lifting the children from one place to another. Rarely, induction of PxDs by sensory stimuli or by passive limb movements has been described in other conditions [17,18]. We presume that in our patients the somatosensory stimulus precipitates the PxD, but we are not able to exclude that proprioception may play a pivotal role.…”

Section: Discussionmentioning

confidence: 77%

X–linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene

Brockmann¹,

Dumitrescu

Best³

et al. 2005

J Neurol

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We previously reported two unrelated boys aged 3 and 8 years with mutations in the thyroid hormone transporter gene MCT8 resulting in severe global retardation and an uncommon pattern of thyroid hormone abnormalities. We now further describe an unusual neurological phenotype associated with these mutations, namely paroxysmal kinesigenic dyskinesias (PKD), provoked by certain stimuli including changing of their clothes or diapers. It is not clear how the MCT8 defect causes PKDs. PKDs have been previously noted in patients with thyroid abnormalities. This novel X-linked condition widens the spectrum of secondary PKDs.

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Section: Discussionmentioning

confidence: 77%

X–linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene

Brockmann¹,

Dumitrescu

Best³

et al. 2005

J Neurol

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“…Outside the attacks, cortical excitability and inhibitory neuronal mechanisms (response threshold and amplitudes, duration of the silent period ipsilaterally and contralaterally, corticocortical inhibition and facilitation) have been found to be normal,50 in contrast with focal task‐related dystonia, where abnormal motor cortex inhibition is also present during isometric muscle contraction 51. SPECT studies during motor attacks52 revealed reduced perfusion of the frontal cortex and basal ganglia and increased perfusion of the cerebellum, a SPECT pattern compatible with other forms of idiopathic and symptomatic forms of dystonia 52…”

Section: Paroxysmal Exercise‐induced Dyskinesia (Ped)mentioning

confidence: 99%

Paroxysmal dyskinesias

Bhatia¹

2011

Movement Disorders

158

127

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Paroxysmal movement disorders are a relatively rare and heterogenous group of conditions manifesting as episodic dyskinesia lasting a brief duration. Three forms are clearly recognized, namely, paroxysmal kinesigenic (PKD), nonkinisegenic (PNKD), and exercise induced (PED). There have been major advances in the understanding of the pathophysiological mechanisms and the genetics of these disorders, leading to better clinical definitions based on genotype-phenotype correlations in the familial idiopathic forms. PKD is genetically heterogenous, but there is linkage to chromosome 16 in a number of families. PNKD is due to mutations of the MR-1 gene. PED is genetically heterogenous, but a number of familial and sporadic cases may be due to GLUT-1 gene mutations. The GLUT1 gene-related form of PED may respond to a ketogenic diet. Potassium and calcium channel mutations underlie the 2 main forms of episodic ataxia (EA1 and EA2), whereas benign torticollis of infancy may also be a calcium channel disorder.

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“…Surprisingly, and in contrast to paroxysmal exercise-induced dystonia [3], proprioceptive and somatosensory afferent inputs by magnetic stimulation of the brachial plexus or of the biceps brachii did not provoke a seizure. This may indicate that the stimuli has a very specific temporal pattern to induce a seizure.…”

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confidence: 85%

Magnetic stimulation during a somatosensory-precipitated epileptic seizure

Meierkord

Masuhr

Meyer

2001

Journal of Neurology

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Sirs: Epilepsy with somatosensory evoked seizures is a form of reflex epilepsy and the mechanisms involved are poorly understood [1]. It has been hypothesised that extensive sensory input plays an important role in the recruitment of a critical number of neurons, culminating in an attack [2]. Painless transcranial magnetic stimulation (TMS) is an important clinical and research tool for examining excitatory and inhibitory neuronal mechanisms within the motor cortex. The unpredictable timing of epileptic seizures, however, makes direct observation of cortical excitability during seizures difficult. Patients with epilepsy have been studied with TMS between seizures, but there are no data on excitability changes immediately before, during or after seizures. We report a case of a man without anticonvulsant medication who could induce seizures by rubbing and kneading of the lateral part of his right shoulder.The 30-year-old engineer had experienced spontaneous seizures since the age of 15 years that started in the right arm with pain and tingling followed by muscle stiffening. He had learned that stimulating his lateral right shoulder with his left hand induced a seizure, which was followed by a postictal refractory period that made spontaneous seizures during the following hours unlikely. He was admitted for diagnostic evaluation because two additional, generalized tonic-clonic seizures had occurred. The patient was studied after we obtained informed consent and ethics committee approval.Magnetic resonance imaging studies were unremarkable. Videoelectroencephalographic recordings revealed a seizure beginning with a brief stiffening of the right arm that was followed by a secondarily generalized tonic-clonic seizure. At clinical onset of the seizure there were sharp slow-wave complexes with phase reversal over the left centro-parietal region, followed by irregular, bilateral frontal discharges and postictal electroencephalographic depression.Rubbing and kneading of the right shoulder with his left hand for about 2 min induced a sensation of pain and tingling in the right arm, followed by dystonic posturing lasting for 15-20 s without loss of consciousness. Ictal perfusion single photon emission computed tomography revealed a relative increase in perfusion by 9-10 % (i. e. more than 2 SD) in the left parietal cortex. TMS (stimulation frequency: 0.33 Hz, 51 % of maximum output) was performed with the Magstim 200 stimulator (2-T version; Magstim, Dyfed, UK) using a round coil (outer diameter 12 cm) centred over the vertex. Surface electromyographic recordings were taken from the right first dorsal interosseous muscle (FDI), the right biceps brachii (BB) and the right extensor carpi radialis muscle (ECR). Continuous TMS over the left sensorimotor cortex for 4 min did not elicit a seizure nor did magnetic stimulation over the right brachial plexus (28 stimuli, 35 % max.) or over the BB (14 stimuli, 50 % max.). On stimulation of the motor cortex and rubbing the shoulder to elicit a seizure, the amplitudes of the cortically ...

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Analysis of stimuli triggering attacks of paroxysmal dystonia induced by exertion

Cited by 13 publications

References 19 publications

X–linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene

X–linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene

Paroxysmal dyskinesias

Magnetic stimulation during a somatosensory-precipitated epileptic seizure

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