Familial Cortical Tremor, Epilepsy, and Mental Retardation

Abstract

This syndrome may represent a specific form of familial cortical tremor with a benign form of epilepsy and a new genetic model of cortical hyperexcitability inherited with an autosomal dominant mechanism.

A Dutch family with 'familial cortical tremor with epilepsy'

“…Our clinical findings are in line with previous studies [5,8,10,12,14] and suggest that this epileptic syndrome can be distinguished from the other epileptic syndromes. It is characterised by 1) autosomal dominant inheritance; 2) intention-like tremor and distal myoclonus; 3) myoclonic and generalised seizures; 4) late onset; 5) moderate progressive course; 6) no pyramidal or cerebellar signs, or features of a neurodegenerative disorder; 7) electrophysiological features of cortical hyperexcitability; 8) good response to of anti-epileptic drugs, especially clonazepam and valproate.…”

“…The observed typical tremulous myoclonus on EMG, the presence of C-reflexes and giant SEPs, and the immediate suppression of both tremulous movements and left parietal spike-wave complexes by clonazepam are in line with the diagnosis FCTE [5,8,10,12,14]. The amplitudes of the SEP was less than 4 microvolts in one defenitely affected patient, due to the use of anticonvulsants [8,12].…”

“…The clinical picture of the Dutch patients closely resembles the features described in other known FCTE pedigrees. However, some clinical differences between pedigrees are noticed and have been previously reported [5]. In contrast to our family, where patients always presented with tremor, patients reported by Okuma, et al (three families, seven affected members), either presented with tremor or epilepsy [12].…”

“…The amplitudes of the SEP was less than 4 microvolts in one defenitely affected patient, due to the use of anticonvulsants [8,12]. In contrast to other studies, EEG backaveraging was not a diagnostic tool in our family [5,8,10,12,19]. In four Japanese families, back-averaging was not discussed [14].…”

A Dutch family with 'familial cortical tremor with epilepsy'

“…Our clinical findings are in line with previous studies [5,8,10,12,14] and suggest that this epileptic syndrome can be distinguished from the other epileptic syndromes. It is characterised by 1) autosomal dominant inheritance; 2) intention-like tremor and distal myoclonus; 3) myoclonic and generalised seizures; 4) late onset; 5) moderate progressive course; 6) no pyramidal or cerebellar signs, or features of a neurodegenerative disorder; 7) electrophysiological features of cortical hyperexcitability; 8) good response to of anti-epileptic drugs, especially clonazepam and valproate.…”

“…The observed typical tremulous myoclonus on EMG, the presence of C-reflexes and giant SEPs, and the immediate suppression of both tremulous movements and left parietal spike-wave complexes by clonazepam are in line with the diagnosis FCTE [5,8,10,12,14]. The amplitudes of the SEP was less than 4 microvolts in one defenitely affected patient, due to the use of anticonvulsants [8,12].…”

“…The clinical picture of the Dutch patients closely resembles the features described in other known FCTE pedigrees. However, some clinical differences between pedigrees are noticed and have been previously reported [5]. In contrast to our family, where patients always presented with tremor, patients reported by Okuma, et al (three families, seven affected members), either presented with tremor or epilepsy [12].…”

“…The amplitudes of the SEP was less than 4 microvolts in one defenitely affected patient, due to the use of anticonvulsants [8,12]. In contrast to other studies, EEG backaveraging was not a diagnostic tool in our family [5,8,10,12,19]. In four Japanese families, back-averaging was not discussed [14].…”

Autosomal Dominant Early‐onset Cortical Myoclonus, Photic‐induced Myoclonus, and Epilepsy in a Large Pedigree

“…Unlike previously reported cases (Elia et al, 1998), the patients presented here did not manifest cognitive impairment, but manifested a behavioral disorder suggestive of mild impairment of frontal lobe functions that seemed to be correlated with the severity of the neurologic symptoms…”

A Dutch family with 'familial cortical tremor with epilepsy'

“…Our clinical findings are in line with previous studies [5,8,10,12,14] and suggest that this epileptic syndrome can be distinguished from the other epileptic syndromes. It is characterised by 1) autosomal dominant inheritance; 2) intention-like tremor and distal myoclonus; 3) myoclonic and generalised seizures; 4) late onset; 5) moderate progressive course; 6) no pyramidal or cerebellar signs, or features of a neurodegenerative disorder; 7) electrophysiological features of cortical hyperexcitability; 8) good response to of anti-epileptic drugs, especially clonazepam and valproate.…”

“…The observed typical tremulous myoclonus on EMG, the presence of C-reflexes and giant SEPs, and the immediate suppression of both tremulous movements and left parietal spike-wave complexes by clonazepam are in line with the diagnosis FCTE [5,8,10,12,14]. The amplitudes of the SEP was less than 4 microvolts in one defenitely affected patient, due to the use of anticonvulsants [8,12].…”

“…The clinical picture of the Dutch patients closely resembles the features described in other known FCTE pedigrees. However, some clinical differences between pedigrees are noticed and have been previously reported [5]. In contrast to our family, where patients always presented with tremor, patients reported by Okuma, et al (three families, seven affected members), either presented with tremor or epilepsy [12].…”

“…The amplitudes of the SEP was less than 4 microvolts in one defenitely affected patient, due to the use of anticonvulsants [8,12]. In contrast to other studies, EEG backaveraging was not a diagnostic tool in our family [5,8,10,12,19]. In four Japanese families, back-averaging was not discussed [14].…”

Autosomal Dominant Early‐onset Cortical Myoclonus, Photic‐induced Myoclonus, and Epilepsy in a Large Pedigree

“…Unlike previously reported cases (Elia et al, 1998), the patients presented here did not manifest cognitive impairment, but manifested a behavioral disorder suggestive of mild impairment of frontal lobe functions that seemed to be correlated with the severity of the neurologic symptoms…”

A Dutch family with 'familial cortical tremor with epilepsy'

“…Our clinical findings are in line with previous studies [5,8,10,12,14] and suggest that this epileptic syndrome can be distinguished from the other epileptic syndromes. It is characterised by 1) autosomal dominant inheritance; 2) intention-like tremor and distal myoclonus; 3) myoclonic and generalised seizures; 4) late onset; 5) moderate progressive course; 6) no pyramidal or cerebellar signs, or features of a neurodegenerative disorder; 7) electrophysiological features of cortical hyperexcitability; 8) good response to of anti-epileptic drugs, especially clonazepam and valproate.…”

“…The observed typical tremulous myoclonus on EMG, the presence of C-reflexes and giant SEPs, and the immediate suppression of both tremulous movements and left parietal spike-wave complexes by clonazepam are in line with the diagnosis FCTE [5,8,10,12,14]. The amplitudes of the SEP was less than 4 microvolts in one defenitely affected patient, due to the use of anticonvulsants [8,12].…”

“…The clinical picture of the Dutch patients closely resembles the features described in other known FCTE pedigrees. However, some clinical differences between pedigrees are noticed and have been previously reported [5]. In contrast to our family, where patients always presented with tremor, patients reported by Okuma, et al (three families, seven affected members), either presented with tremor or epilepsy [12].…”

“…The amplitudes of the SEP was less than 4 microvolts in one defenitely affected patient, due to the use of anticonvulsants [8,12]. In contrast to other studies, EEG backaveraging was not a diagnostic tool in our family [5,8,10,12,19]. In four Japanese families, back-averaging was not discussed [14].…”

Autosomal Dominant Early‐onset Cortical Myoclonus, Photic‐induced Myoclonus, and Epilepsy in a Large Pedigree

“…Unlike previously reported cases (Elia et al, 1998), the patients presented here did not manifest cognitive impairment, but manifested a behavioral disorder suggestive of mild impairment of frontal lobe functions that seemed to be correlated with the severity of the neurologic symptoms…”