title: An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation.
abstract: 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.
authors.affiliation: French National Reference centre for familial amyloid polyneuropathies, Hôpitaux Universitaires Paris Sud, APHP, France. pierre.lozeron@lrb.aphp.fr
authors.forename: Pierre
authors.initials: P
authors.lastname: Lozeron
authors.forename: Catherine
authors.initials: C
authors.lastname: Lacroix
authors.forename: Marie
authors.initials: M
authors.lastname: Theaudin
authors.forename: Anne
authors.initials: A
authors.lastname: Richer
authors.forename: Michel
authors.initials: M
authors.lastname: Gugenheim
authors.forename: David
authors.initials: D
authors.lastname: Adams
authors.forename: Micheline
authors.initials: M
authors.lastname: Misrahi
mesh_terms: D000682:Amyloid / Q000235:genetics*; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis*; D003937:Diagnosis, Differential; D015870:Gene Expression; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*
chemical_list: D000682:Amyloid; D011228:Prealbumin; C041120:amyloid prealbumin