title: Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan.
abstract: We recently reported clinical anticipation in Japanese families with benign adult familial myoclonus epilepsy (BAFME). However, it remains unknown whether clinical anticipation is predominantly associated with paternal or maternal transmission. We investigated the relationship between gender of the transmitting parent and clinical anticipation in nine BAFME families. Clinical anticipation regarding either cortical tremor or generalised seizures was observed in all 12 parent/child pairs (8 mother/child pairs and 4 father/child pairs). Moreover, a higher degree of clinical anticipation was associated with maternal transmission than with paternal transmission (p=0.03). Although a causative gene for BAFME still remains unknown, our finding suggests that BAFME and diseases with unstable expanding repeats, including those in non-coding regions, might share a similar molecular mechanism because such diseases often show clinical anticipation with maternal transmission.
authors.affiliation: Department of Neurology, Kyoto University Graduate School of medicine, Department of Respiratory Care and Sleep Control Medicine, Kyoto University Graduate School of medicine.
authors.forename: Takefumi
authors.initials: T
authors.lastname: Hitomi
authors.affiliation: Department of Neurology, Kyoto University Graduate School of medicine.
authors.forename: Katsuya
authors.initials: K
authors.lastname: Kobayashi
authors.affiliation: Department of Neurology, Kyoto University Graduate School of medicine.
authors.forename: Naoto
authors.initials: N
authors.lastname: Jingami
authors.affiliation: Department of Neurology, Takeda General Hospital, Kyoto.
authors.forename: Tomokazu
authors.initials: T
authors.lastname: Nakagawa
authors.affiliation: Department of Neurology, Kyoto University Graduate School of medicine.
authors.forename: Hisaji
authors.initials: H
authors.lastname: Imamura
authors.affiliation: Department of Epilepsy, Movement disorders and Physiology, Kyoto University Graduate School of medicine.
authors.forename: Riki
authors.initials: R
authors.lastname: Matsumoto
authors.affiliation: Department of Neurology, Kyoto University Graduate School of medicine.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Kondo
authors.affiliation: Department of Respiratory Care and Sleep Control Medicine, Kyoto University Graduate School of medicine.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Chin
authors.affiliation: Department of Neurology, Kyoto University Graduate School of medicine.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Takahashi
authors.affiliation: Department of Epilepsy, Movement disorders and Physiology, Kyoto University Graduate School of medicine.
authors.forename: Akio
authors.initials: A
authors.lastname: Ikeda
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D004198:Disease Susceptibility; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012737:Sex Factors; D014202:Tremor / Q000235:genetics; D055815:Young Adult
keywords: benign adult familial myoclonus epilepsy (BAFME); clinical anticipation; maternal transmission