A Dutch family with 'familial cortical tremor with epilepsy'

Rootselaar, Fleur van; Callenbach, Petra M. C.; Hottenga, Jouke Jan; Vermeulen, F; Speelman, Hans; Brouwer, Oebele F.; Tijssen, Marina A. J.

doi:10.1007/s00415-002-0729-x

Cited by 43 publications

(25 citation statements)

References 19 publications

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“…Patients with cortical tremor, presenting with tremulous movements, sometimes resembling ET, and with or without a (family) history of epilepsy, can show a so-called “giant potential” upon median nerve stimulation during a somatosensory evoked potential measurement (Okuma et al, 1997; van Rootselaar et al, 2002). A giant potential is in line with cortical hyperexcitability and a sign of cortical myoclonus.…”

Section: Resultsmentioning

confidence: 99%

How to Tackle Tremor – Systematic Review of the Literature and Diagnostic Work-Up

Buijink¹,

Contarino²,

Koelman³

et al. 2012

Front. Neur.

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Background: Tremor is the most prevalent movement disorder in clinical practice. It is defined as involuntary, rhythmic, oscillatory movements. The diagnostic process of patients with tremor can be laborious and challenging, and a clear, systematic overview of available diagnostic techniques is lacking. Tremor can be a symptom of many diseases, but can also represent a distinct disease entity. Objective: The objective of this review is to give a clear, systematic and step-wise overview of the diagnostic work-up of a patient with tremor. The clinical relevance and value of available laboratory tests in patients with tremor will be explored. Methods: We systematically searched through EMBASE. The retrieved articles were supplemented by articles containing relevant data or provided important background information. Studies that were included investigated the value and/or usability of diagnostic tests for tremor. Results: In most patients, history and clinical examination by an experienced movement disorders neurologist are sufficient to establish a correct diagnosis, and further ancillary examinations will not be needed. Ancillary investigation should always be guided by tremor type(s) present and other associated signs and symptoms. The main ancillary examination techniques currently are electromyography and SPECT imaging. Unfortunately, many techniques have not been studied in large prospective, diagnostic studies to be able to determine important variables like sensitivity and specificity. Conclusion: When encountering a patient with tremor, history, and careful clinical examination should guide the diagnostic process. Adherence to the diagnostic work-up provided in this review will help the diagnostic process of these patients.

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Section: Resultsmentioning

confidence: 99%

How to Tackle Tremor – Systematic Review of the Literature and Diagnostic Work-Up

Buijink¹,

Contarino²,

Koelman³

et al. 2012

Front. Neur.

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“…Pathophysiology is not entirely clear. In addition to features of cortical functional changes, cerebellar signs and cerebellar pathological changes were described in the Dutch pedigree 14,16–18. Here, we describe neuropathology findings in a third, novel Dutch FCMTE case (Study I), and, in addition to our previous review and the recent review of Striano and colleagues,19 review the literature on this syndrome (Study II).…”

Section: Introductionmentioning

confidence: 71%

“…A Dutch woman, a member of the Dutch FCMTE pedigree described earlier,14,16–18,21–23 died at the age of 50 years from pulmonary metastases from colorectal carcinoma (Figure 1, patient III:10; Table 2). Post-mortem examination was performed with informed consent.…”

Section: Study I: Neuropathologymentioning

confidence: 94%

“…g-SEPs and long latency reflexes are not detected in all patients, and it has been reported that antiepileptic drugs (AEDs) can normalize these electrophysiological abnormalities 11, 17. Antiepileptic drugs, especially clonazepam and valproic acid, were generally reported to diminish the tremulous movements and epileptic seizures 1,5,8,14,26–28. More recent data suggest a beneficial antimyoclonic effect of levetiracetam 29, 30.…”

Section: Study Ii: Literature Searchmentioning

confidence: 99%

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Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature

Sharifi

Aronica

Koelman

et al. 2012

Tremor and Other Hyperkinetic Movements

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“…Cerebellar symptoms or cerebellar atrophy have also been reported in several BAFME pedigrees;12,13 hence, dysfunction of the cerebellum seems to be involved in the pathology of BAFME. However, electrophysiological studies of BAFME suggest that myoclonus originates in the cerebral cortex.…”

Section: Introductionmentioning

confidence: 98%

A case-control proton magnetic resonance spectroscopy study confirms cerebellar dysfunction in benign adult familial myoclonic epilepsy

Long¹,

Song²,

Zhang³

et al. 2015

NDT

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BackgroundBenign adult familial myoclonic epilepsy (BAFME) is a rare form of epilepsy syndrome. The pathogenesis of BAFME remains unclear, though it seems to involve dysfunction of the cerebellum.ObjectivesThe purpose of this study was to use proton magnetic resonance spectroscopy (1H-MRS) to investigate whether neurochemical changes underlie abnormal brain function in BAFME.MethodsTwelve BAFME patients from one family and 12 age- and sex-matched healthy controls were enrolled in this study. The ratios of NAA/Cr, NAA/Cho, Cho/Cr, and NAA/(Cr+Cho) were analyzed.ResultsThe BAFME patients exhibited a decreased N-acetylaspartate (NAA)/choline (Cho) ratio in the cerebellar cortex, whereas there were no significant differences in the NAA/creatine (Cr), Cho/Cr, and NAA/(Cr+Cho) ratios compared with healthy controls. There were no significant differences in 1H-MRS values in the frontal cortex or thalamus between the BAFME patients and controls. No correlation was detected between the NAA/Cho ratio in the cerebellar cortex and disease duration, myoclonus severity, or tremor severity.ConclusionOur results indicate clear cerebellar dysfunction in BAFME. 1H-MRS is a useful tool for the diagnosis of BAFME in combination with family history and electrophysiological examination.

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A Dutch family with 'familial cortical tremor with epilepsy'

Abstract: In this family with autosomal dominant FCTE, specific clinical and electrophysiological features were identified. Exclusion of linkage to chromosome 8q23.3-q24.1 indicates that genetic heterogeneity exists for FCTE.

Cited by 43 publications

References 19 publications

How to Tackle Tremor – Systematic Review of the Literature and Diagnostic Work-Up

How to Tackle Tremor – Systematic Review of the Literature and Diagnostic Work-Up

Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature

A case-control proton magnetic resonance spectroscopy study confirms cerebellar dysfunction in benign adult familial myoclonic epilepsy

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