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Updated: Sep 27, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Phenotypic variability of aprataxin gene mutations
C Tranchant1, M Fleury, M C Moreira
1Clinique neurologique, Hôpitaux universitaires, CNRS, INSERM, Strasbourg. France. Christine.Tranchant@chru-strasbourg.fr
Abstract:
The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese founding haplotype. Patients 2 and 3 were French siblings and did not present with either OMA or hypoalbuminemia. They were compound heterozygous for the nonsense W279X mutation and a missense K197Q mutation.
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