Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up

Affiliation:	1. Department of Neurology, University of Pretoria, Pretoria, South Africa;2. Department of Neurology and Neurophysiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands;1. Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, Strasbourg, France;2. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France;3. AP-HP, Unité de Neurophysiologie, Hôpital Saint-Antoine, Paris, France;4. Institut du Cerveau et de la Moelle Epinière, Sorbonne Universités, Université Pierre et Marie Curie, University Paris 06, Unité Mixte de Recherche (UMR) 1127, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique UMR 7225, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France;5. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France;6. Département de Génétique et Cytogénétique, Assistance Publique–Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France;7. INSERM U827, Institut Universitaire de la Recherche Clinique, 640 avenue du doyen Gaston Giraud, 34093 Montpellier cedex 5, France;8. Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire (CHU) Montpellier, France;9. Laboratoire de Génétique Médicale, Institut de Génétique Médicale d’Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France;10. Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France;11. ESPCI ParisTech, PSL Research University, Paris, France;12. Département de Neuropédiatrie, Hôpital de Hautepierre, CHU de Strasbourg, Strasbourg, France;1. Department of Psychology and Psychiatry, Zuyderland Medical Center, The Netherlands;2. Department of Clinical and Developmental Neuropsychology, University of Groningen, The Netherlands;3. Department of Psychiatry and Psychotherapy, University of Rostock, Germany;4. RINO Zuid, Eindhoven, The Netherlands;5. Faculty of Psychology and Neuropsychology, Department of Clinical Psychological Science, Maastricht University, The Netherlands;1. Unité de neuropédiatrie, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France;2. CARAMEL, centre de référence maladies mitochondriales, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France;3. CREER, centre de référence épilepsie de l’enfant rares, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France

Abstract:	AimThe aims of this study were to report the index case of a South African family with cortical myoclonic tremor and epilepsy, to describe the pedigree with the clinical findings and results of additional investigations, and to report the unique follow-up evaluation of affected and unaffected family members after 30 years.MethodsThe index case led to evaluation of the clinical files of patients from 1978/1979 and clinical assessment and investigation of patients from this cohort as well as newly identified family members. Patients were examined clinically; cortical myoclonic tremor severity was scored by using the Fahn-Tolosa- Marin-Tremor Rating Scale and the Myoclonus Rating Scale. Cortical origin of myoclonus was proven. Statistical analyses were done to assess the impact of cortical myoclonic tremor on quality of life.ConclusionClinical data was available for 23 patients. Increase in cortical myoclonic tremor and age showed a statistically significant correlation with worsening of the sub-score for Quality of Life (FTMTRS) and myoclonus rating scale.After 30 years eleven of fourteen patients could be followed up. Progression of cortical myoclonic tremor severity was noted but epilepsy control was adequate with all patients reporting less than two seizures per year. No clinical features of neurodegeneration were found.DiscussionWe describe the initial presentation and 30 year follow-up of a four generation South African family with FCMTE. The unique long term follow up of this pedigree supports previous findings that the condition does not cause additional progressive neurological deterioration and quality of life is mostly influenced by worsening of the cortical myoclonic tremor with age.

Keywords:	Cortical myoclonic tremor Myoclonus Familial myoclonus Familial autosomal dominant myoclonus Epilepsy
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