A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy

Takeshi Matsuoka, Hirokazu Furuya, Koji Ikezoe, Hiroyuki Murai, Yasumasa Ohyagi, Takashi Yoshiura, Masayuki Sasaki, Syozo Tobimatsu, Jun Ichi Kira

Research output: Contribution to journalArticle

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Abstract

We report a 20-year-old man with temporal lobe epilepsy (TLE) accompanied by hereditary motor and sensory neuropathy (HMSN). He had experienced complex partial seizures (CPS), which started with a nausea-like feeling, followed by loss of consciousness and automatism, since he was 6 years old. The frequency of attacks was at first decreased by phenytoin. However, attacks increased again when he was 18 years old. On admission, neurological examination showed mild weakness of the toes, pes cavus, hammer toe and mildly impaired vibratory sensation in his legs. Ten people in four generations of his family showed a history of epilepsy in the autosomal dominant inheritance form. His younger sister and mother had a history of epilepsy accompanied with pes cavus, hammer toe, weakness of toe and finger extension and mildly impaired vibratory sensation as well. Direct sequencing of the glioma-inactivated leucine-rich gene (LGI1), in which several mutations were reported in patients with familial lateral temporal lobe epilepsy, showed no specific mutation in this family. On consecutive video-EEG monitoring, paroxysmal rhythmic activity was confirmed in his left fronto-temporal region when he showed automatism, and then a generalized slow burst activity was detected when he lost consciousness. For his seizures, TLE with secondary generalization was diagnosed. In the nerve conduction study, delayed nerve conduction, distal motor latency and decreased amplitudes of the compound muscle action potentials (CMAP) of bilateral peroneal nerves were observed, indicating the existence of mild axonal degeneration. Based on these data, we consider that this family to be a new phenotype of autosomal dominant TLE accompanied by motor and sensory neuropathy.

Original languageEnglish
Pages (from-to)43-49
Number of pages7
JournalClinical Neurology
Volume44
Issue number1
Publication statusPublished - Jan 1 2004

Fingerprint

Temporal Lobe Epilepsy
Hammer Toe Syndrome
Automatism
Hypesthesia
Neural Conduction
Toes
Epilepsy
Seizures
Hereditary Sensory and Motor Neuropathy
Peroneal Nerve
Mutation
Unconsciousness
Neurologic Examination
Phenytoin
Temporal Lobe
Consciousness
Leucine
Glioma
Nausea
Action Potentials

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

Cite this

Matsuoka, T., Furuya, H., Ikezoe, K., Murai, H., Ohyagi, Y., Yoshiura, T., ... Kira, J. I. (2004). A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy. Clinical Neurology, 44(1), 43-49.

A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy. / Matsuoka, Takeshi; Furuya, Hirokazu; Ikezoe, Koji; Murai, Hiroyuki; Ohyagi, Yasumasa; Yoshiura, Takashi; Sasaki, Masayuki; Tobimatsu, Syozo; Kira, Jun Ichi.

In: Clinical Neurology, Vol. 44, No. 1, 01.01.2004, p. 43-49.

Research output: Contribution to journalArticle

Matsuoka, T, Furuya, H, Ikezoe, K, Murai, H, Ohyagi, Y, Yoshiura, T, Sasaki, M, Tobimatsu, S & Kira, JI 2004, 'A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy', Clinical Neurology, vol. 44, no. 1, pp. 43-49.
Matsuoka T, Furuya H, Ikezoe K, Murai H, Ohyagi Y, Yoshiura T et al. A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy. Clinical Neurology. 2004 Jan 1;44(1):43-49.
Matsuoka, Takeshi ; Furuya, Hirokazu ; Ikezoe, Koji ; Murai, Hiroyuki ; Ohyagi, Yasumasa ; Yoshiura, Takashi ; Sasaki, Masayuki ; Tobimatsu, Syozo ; Kira, Jun Ichi. / A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy. In: Clinical Neurology. 2004 ; Vol. 44, No. 1. pp. 43-49.
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