Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation

J Neuromuscul Dis. 2020;7(4):515-519. doi: 10.3233/JND-200542.

Abstract

Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a multisystemic disease usually presenting in a mixed neurological and cardiological phenotype. We present a case of hATTR amyloidosis associated with Leu55Arg mutation causing a form of familial oculo-leptomeningeal amyloidosis. Two brothers and their mother presented with severe autonomic neuropathy, loss of visual acuity and lepto-meningeal involvement. One patient suffered subarachnoid hemorrhage as a possible complication of cerebral involvement. The patients suffered from treatment-refractory weight loss and recurring vitreous opacities. RNA interference-based treatment has led to stabilization of autonomic and peripheral neuropathy but has had no effect on ocular symptoms.

Keywords: FAP; Transthyretin amyloidosis; hATTR; polyneuropathy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amyloid Neuropathies, Familial* / complications
  • Amyloid Neuropathies, Familial* / genetics
  • Amyloid Neuropathies, Familial* / pathology
  • Amyloid Neuropathies, Familial* / physiopathology
  • Autonomic Nervous System Diseases / etiology
  • Autonomic Nervous System Diseases / physiopathology
  • Female
  • Humans
  • Male
  • Meninges / pathology*
  • Peripheral Nervous System Diseases / etiology
  • Peripheral Nervous System Diseases / physiopathology
  • Prealbumin / genetics*
  • Subarachnoid Hemorrhage / etiology
  • Vision Disorders* / etiology
  • Vision Disorders* / physiopathology

Substances

  • Prealbumin
  • TTR protein, human

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related