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.
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: Andreas Thimm; Saskia Bolz; Michael Fleischer; Benjamin Stolte; Sebastian Wurthmann; Andreas Totzeck; Alexander Carpinteiro; Peter Luedike; Maria Papathanasiou; Christoph Rischpler; Ken Herrmann; Tienush Rassaf; Lars Steinmüller-Magin; Christoph Kleinschnitz; Tim Hagenacker Journal: Neurol Res Pract Date: 2019-09-18
Authors: David Adams; Yukio Ando; João Melo Beirão; Teresa Coelho; Morie A Gertz; Julian D Gillmore; Philip N Hawkins; Isabelle Lousada; Ole B Suhr; Giampaolo Merlini Journal: J Neurol Date: 2020-01-06 Impact factor: 4.849
Authors: Louise-Laure Mariani; Pierre Lozeron; Marie Théaudin; Zoia Mincheva; Aissatou Signate; Beatrice Ducot; Vincent Algalarrondo; Christian Denier; Clovis Adam; Guillaume Nicolas; Didier Samuel; Michel S Slama; Catherine Lacroix; Micheline Misrahi; David Adams Journal: Ann Neurol Date: 2015-10-07 Impact factor: 10.422