Follow-up in transthyretin familial amyloid polyneuropathy: Useful investigations
作者: Fabiola Escolano-LozanoChristian GeberAna Paula BarreirosFrank Birklein
作者单位: 1Department of Neurology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
2German Red Cross Pain Center, Mainz, Germany
3German Foundation for Organ Transplantation (DSO), Mainz, Germany
刊名: Journal of the Neurological Sciences, 2020, Vol.413
来源数据库: Elsevier Journal
DOI: 10.1016/j.jns.2020.116776
关键词: TTR-FAPAmyloidosisPolyneuropathyNeurophysiologyQSTDisease progression
原始语种摘要: Abstract(#br)Patients with transthyretin amyloid polyneuropathy (TTR-FAP) and asymptomatic mutation-carriers have to be regularly followed-up in order to identify disease progression and the time point for starting or modifying therapy. In this case series we describe the potential suitability of different variables as progression markers.(#br)We retrospectively analyzed the follow-up charts of 10 TTR-FAP patients. Clinical examination included the Neuropathy Impairment Score of Lower Limb (NIS-LL), temperature perception thresholds, nerve conduction and autonomic function tests.(#br)The NIS-LL had the greatest value for a sensitive and correct follow-up for all TTR-FAP stages. All other examinations provided useful additional information but they were either less suited for advanced...
全文获取路径: Elsevier  (合作)
影响因子:2.243 (2012)

  • polyneuropathy 多神经病
  • amyloid 淀粉状朊
  • FAP Failure Analysis Program
  • familial 家族性
  • progression 级数