a family with HSMN/CMT and epilepsy-research news

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Research Abstract from Rinsho Shinkeigaku. 2004 Jan;44(1):43-9.

A family with autosomal dominant temporal lobe epilepsy accompanied by

motor and sensory neuropathy

Matsuoka T, Furuya H, Ikezoe K, Murai H, Ohyagi Y, Yoshiura T, Sasaki M,

Tobimatsu S, Kira J.

Department of Neurology, Graduate School of Medical Sciences, Kyushu

University.

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.