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

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

Author information

1
French National Reference centre for familial amyloid polyneuropathies, Hôpitaux Universitaires Paris Sud, APHP, France. pierre.lozeron@lrb.aphp.fr

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.

PMID:
23914756
DOI:
10.3109/13506129.2013.818535
[Indexed for MEDLINE]

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