Gait characterization and analysis of hereditary amyloidosis associated with transthyretin patients: a case series

Maria do Carmo Vilas-Boas*, Pedro Filipe Pereira Fonseca, Inês Martins Sousa, Márcio Neves Cardoso, João Paulo Silva Cunha, Teresa Coelho

*Corresponding author for this work

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1 Citation (Scopus)


Hereditary amyloidosis associated with transthyretin (ATTRv), is a rare autosomal dominant disease characterized by length-dependent symmetric polyneuropathy that has gait impairment as one of its consequences. The gait pattern of V30M ATTRv amyloidosis patients has been described as similar to that of diabetic neuropathy, associated with steppage, but has never been quantitatively characterized. In this study we aim to characterize the gait pattern of patients with V30M ATTRv amyloidosis, thus providing information for a better understanding and potential for supporting diagnosis and disease progression evaluation. We present a case series in which we conducted two gait analyses, 18 months apart, of five V30M ATTRv amyloidosis patients using a 12-camera, marker based, optical system as well as six force platforms. Linear kinematics, ground reaction forces, and angular kinematics results are analyzed for all patients. All patients, except one, showed a delayed toe-off in the second assessment, as well as excessive pelvic rotation, hip extension and external transverse rotation and knee flexion (in stance and swing phases), along with reduced vertical and mediolateral ground reaction forces. The described gait anomalies are not clinically quantified; thus, gait analysis may contribute to the assessment of possible disease progression along with the clinical evaluation.

Original languageEnglish
Article number3967
Number of pages28
Journal Journal of Clinical Medicine
Issue number14
Publication statusPublished - 1 Jul 2022


  • ATTRv amyloidosis
  • Clinical neurology
  • Familial Amyloid Polyneuropathy
  • Gait analysis
  • Movement quantification
  • Peripheral neuropathy


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