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Neurology 2002;58:941-944
© 2002 American Academy of Neurology

Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME)

P. Labauge, MD PhD, L. O. Amer, BS, M. Simonetta-Moreau, MD PhD, F. Attané, MD, C. Tannier, MD, M. Clanet, MD, G. Castelnovo, MD, I. An-Gourfinkel, MD, Y. Agid, MD PhD, A. Brice, MD, A. Ducros, MD PhD and E. LeGuern, MD PhD

From the Service de Neurologie (Drs. Labauge, Castelnovo, and Ducros), CHU Montpellier-Nîmes, Hôpital Caremeau, Nîmes; INSERM U289 (Drs. Agid, Brice, and LeGuern, and L. Amer) and Pôle d’Epileptologie Clinique (Dr. An-Gourfinkel), Hôpital Pitié-Salpêtrière, Paris; Service de Neurologie (Drs. Simonetta-Moreau and Clanet), CHU Purpan, Toulouse; and Service de Neurologie (Drs. Attané and Tannier), Centre Hospitalier, Carcassonne, France.

Address correspondence and reprint requests to Dr. P. Labauge, Service de Neurologie, CHU Montpellier-Nîmes, Hôpital Caremeau, 2 Avenue du Pr Debré, 30029 Nîmes, Cedex 4, France; e-mail: labauge{at}hotmail.com

Background: Familial adult myoclonic epilepsy (FAME) is defined by autosomal dominant inheritance, adult onset of myoclonus of the extremities, infrequent epileptic seizures, nonprogressive course, abnormality of polyspikes and waves on examination by EEG and photosensitivity, giant somatosensory evoked potentials, enhancement of C reflex, and premyoclonus spike detected by means of the jerk-locked averaging EEG method. These findings were also observed in patients with benign adult familial myoclonic epilepsy (BAFME) and patients with familial cortical tremor. FAME and BAFME have been described only in Japan. The genes responsible for FAME and BAFME were mapped in the same genetic interval in 8q22.3-q24.1

Objective: To study clinical and genetic characteristics of a European family with FAME.

Methods: A four-generation European kindred presenting with FAME, including 18 members, is described. Clinical analysis was performed on 15 living subjects and electrophysiologic study on 5 patients. Linkage analysis was performed with fluorescent microsatellites encompassing the FAME/BAFME locus (8q23.3-q24.1).

Results: Ten living and three deceased relatives had the clinical characteristics of FAME. Mean age at onset of the 10 living patients was 41 years (range, 30–60 years). Eight of the 13 affected subjects had generalized tonic-clonic seizures. Electrophysiologic studies confirmed the diagnosis of FAME in the five patients studied. The pattern of inheritance was consistent with an autosomal dominant inheritance. The locus responsible for FAME/BAFME was excluded.

Conclusion: Observation of a European family extends the occurrence of familial adult myoclonic epilepsy to non-Japanese patients. Exclusion of linkage of this family to the locus for familial adult myoclonic epilepsy/benign adult familial myoclonic epilepsy established the genetic heterogeneity of this disorder.




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Correspondence:

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Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME)
Yasuyuki Okuma, et al.
Neurology Online, 27 Jun 2002 [Full text]
Reply to Letter to the Editor
Pierre Labauge
Neurology Online, 27 Jun 2002 [Full text]

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