An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation. (5th August 2013)

• Record Type: Journal Article
• Authors: Lozeron, Pierre; Lacroix, Catherine; Theaudin, Marie; Richer, Anne; Gugenheim, Michel; Adams, David; Misrahi, Micheline
• Is Part Of: Amyloid. Volume 20:Number 3(2013:Sep.)
• Page Start: 188
• Page End: 192
• Publication Date: 2013-08-05
• Subjects: Amyloidosis -- familial amyloid polyneuropathy motor neuropathy -- transthyretin -- Val93Met; Amyloidosis -- Periodicals; 616.3995
• DOI: 10.3109/13506129.2013.818535
• Languages: English
• ISSNs: 1350-6129

Abstract

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.