An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation

Amyloid. 2013 Sep;20(3):188-92. doi: 10.3109/13506129.2013.818535. Epub 2013 Aug 5.


Objective: Familial amyloid polyneuropathy (FAP) is typically a predominantly sensory and autonomic neuropathy with progressive and late motor involvement leading to death within 10 years. Recently, prognosis was transformed with liver transplantation.

Methods: We report an atypical sporadic pure motor and bulbar neuropathy initially mistaken for amyotrophic lateral sclerosis (ALS) in a 50-year-old Malian man.

Results: The diagnostic procedure of this clinical purely motor and bulbar neuropathy disclosed amyloid deposits on nerve biopsy which led to the identification of a new Val93Met mutation of transthyretin. This case was also remarkable by its slow progression.

Conclusions: This report confirms the motor phenotype of TTR-FAP. That should be considered in the differential diagnosis of motor neuron diseases in order to start accurate therapy.

Publication types

  • Case Reports

MeSH terms

  • Amyloid / genetics*
  • Amyloid Neuropathies, Familial / diagnosis*
  • Amyloid Neuropathies, Familial / genetics
  • Amyloid Neuropathies, Familial / pathology
  • Amyotrophic Lateral Sclerosis / diagnosis*
  • Diagnosis, Differential
  • Gene Expression
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Prealbumin / genetics*


  • Amyloid
  • Prealbumin
  • amyloid prealbumin