title: Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up.
abstract: OBJECTIVE
  The 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.
  
  
  METHODS
  The 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.
  
  
  CONCLUSIONS
  Clinical 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.
  
  
  CONCLUSIONS
  We 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.
authors.affiliation: Department of Neurology, University of Pretoria, Pretoria, South Africa. Electronic address: riaan@drvancoller.co.za.
authors.forename: Riaan
authors.initials: R
authors.lastname: van Coller
authors.affiliation: Department of Neurology and Neurophysiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Anne-Fleur
authors.initials: AF
authors.lastname: van Rootselaar
authors.affiliation: Department of Neurology, University of Pretoria, Pretoria, South Africa.
authors.forename: Clara
authors.initials: C
authors.lastname: Schutte
authors.affiliation: Department of Neurology, University of Pretoria, Pretoria, South Africa.
authors.forename: C H
authors.initials: CH
authors.lastname: van der Meyden
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000453:epidemiology* / Q000523:psychology; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011788:Quality of Life; D012720:Severity of Illness Index; D013019:South Africa / Q000453:epidemiology; D055815:Young Adult
keywords: Cortical myoclonic tremor; Epilepsy; Familial autosomal dominant myoclonus; Familial myoclonus; Myoclonus