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ARTICLES: P. Labauge, L. O. Amer, M. Simonetta-Moreau, F. Attané, C. Tannier, M. Clanet, G. Castelnovo, I. An-Gourfinkel, Y. Agid, A. Brice, A. Ducros, and E. LeGuern Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME) Neurology 2002; 58: 941-944 [Abstract] [Full text] [PDF]

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Reply to Letter to the Editor

Pierre Labauge   (27 June 2002)

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

Yasuyuki Okuma, Yoshikuni Mizuno   (27 June 2002)

Reply to Letter to the Editor 27 June 2002
Pierre Labauge Hopital Caremeau Nimes France Send Correspondence to journal: Re: Reply to Letter to the Editor labauge{at}hotmail.com Pierre Labauge	We read with interest the comments from Dr. Okuma. FAME is likely under diagnosed disease. [1] Recent reports [2, 3, 4,5] reveal that FAME will soon be better recognized. FAME mainly occurs in Japanese families. Reports of non-Japanese families are rare [1, 6]. We agree that familial cortical tremor, FAME, BFAME are the same disease. But careful analysis of the different families studied was required to establish this conclusion. We agree the Italian family described by Elia et al [6], and classified as familial cortical tremor shares similar characteristics with FAME, but is quite different. Abnormal movements presented by patients with FAME can be misdiagnosed as tremor. Careful clinical examination shows that this movement consists of myoclonus. Differential diagnosis of myoclonus is important since antiepileptic treatment is effective, in contrast to beta- blockers. Genetic analysis of our family [1] demonstrates genetic heterogeneity of FAME. Japanese families that were studied are linked to 8q24. This result could suggest that Japanese families are linked to 8q24, in contrast to European families. Genetic analysis of other non-Japanese families is required to confirm this hypothesis. References 1. Labauge P, Amer LO, Simonetta-Moreau, et al. Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). Neurology 2002;58:941-944. 2. Ikeda A, Kakigi R, Funami N, Neshige R, Kuroda Y, Shibasaki H. Cortical tremor: A variant of cortical reflex myoclonus. Neurology 1990;40:1561-1565. 3. Oguni E, Hayashi A, Ishii A, Mizusaswa H, Shoji S. A case of cortical tremor as a variant of cortical reflex myoclonus. Eur Neurol 1995;35:63-64. 4. Okuma Y, Shimo Y, Hatori K, Hattori T, Tanaka S, Mizuno Y. Familial cortical tremor with epilepsy. Parkinsonism Rel Disord 1997;3:83- 87. 5. Okuma Y, Shimo Y, Shimura H, et al. Familial cortical tremor with epilepsy: an under-recognized familial tremor. Clin Neurol Neurosurgery 1998;100:75-78. 6. Elia M, Musumeci SA, Ferri R, et al. Familial cortical tremor, epilepsy, and mental retardation. A distinct clinical entity. Arch Neurol 1998; 55:1569-1573.
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME) 27 June 2002
Yasuyuki Okuma JuntendoIzu-Nagaoka Hospital Shizuoka Japan, Yoshikuni Mizuno Send Correspondence to journal: Re: Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME) sgz02202{at}nifty.ne.jp Yasuyuki Okuma, et al.	We read with interest the paper by Labauge et al. reporting a European family with familial adult myoclonic epilepsy (FAME) in which the linkage to 8q24 was excluded. [1] FAME and benign adult familial myoclonic epilepsy (BAFME) have been described only in Japan, and the only gene associated with these disorders that was mapped previously was 8q23.3 -q24. We agree with their suggestion that FAME, BAFME, and familial cortical tremor (FCT) are the same entity but may well be genetically heterogenous. However, their statement "only three FCT families with autosomal dominant inheritance have been previously reported in Japan" needs to be corrected. We refer them to the following additional reports. Reviewing the reports of FCT from Japan, Ikeda et al. who coined the term "cortical tremor" and reported that among six siblings of a Japanese patient; one sister and one brother showed cortical tremor. [2] Another described a patient with cortical tremor with a family history of tremor and seizures. [3] These two reports do not necessarily indicate autosomal dominant inheritance. A third reported three families with FCT, as included by the authors in their references. [1]. We reported a Japanese family in which five members from three successive generations developed cortical tremor and epilepsy. [4] Autosomal dominant inheritance was suggested. We later reported three other families with cortical tremor in which members from at least two successive generations were affected. [5] Most of the affected family members showed clinical features resembling essential tremor and infrequent seizures. Electrophysiological findings indicate cortical reflex myoclonus. Recently we have encountered another three families with cortical tremor with probably autosomal dominant inheritance. Furthermore, many patients with FCT have been described in Japanese literature. Thus, FCT may not be a rare disorder in Japan, and therefore, its differentiation from essential tremor is important. Correct diagnosis of FCT will avoid unnecessary treatment with beta- blockers and will lead to successful treatment with anticonvulsants, particularly clonazepam and sodium valproate. Regarding the Italian family with FCT, since two of the family members showed an early onset of epilepsy and mental retardation, it may not be the same entity as the FCT reported in Japan. Further clinical and genetic studies are necessary to understand this treatable but under-recognized disorder. References: 1. Labauge P, Amer LO, Simonetta-Moreau, et al. Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). Neurology 2002;58:941-944. 2. Ikeda A, Kakigi R, Funami N, Neshige R, Kuroda Y, Shibasaki H. Cortical tremor: A variant of cortical reflex myoclonus. Neurology 1990;40:1561-1565. 3. Oguni E, Hayashi A, Ishii A, Mizusaswa H, Shoji S. A case of cortical tremor as a variant of cortical reflex myoclonus. Eur Neurol 1995;35:63-64. 4. Okuma Y, Shimo Y, Hatori K, Hattori T, Tanaka S, Mizuno Y. Familial cortical tremor with epilepsy. Parkinsonism Rel Disord 1997;3:83- 87. 5. Okuma Y, Shimo Y, Shimura H, et al. Familial cortical tremor with epilepsy: An under-recognized familial tremor. Clin Neurol Neurosurgery 1998;100:75-78.