Friedreich Ataxia Clinical Trial
Official title:
Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia : INTREP-AF
Friedreich's ataxia (FA) is the most frequent recessive genetic ataxia with an estimated
prevalence of 1/50 000. The first symptoms appear around the age of 10 years with a
progressive course and the need for an armchair 10- 15 years after the first symptoms. More
rarely the disease can present with a late onset (after the age of 25) with a picture
characterized by spastic paraparesis and slower progression ("LOFA" for "Late Onset
Friedreich Ataxia" or VLOFA for "Very Late Appearance of Friedreich's ataxia ").
AF is caused in 96% of cases by an expansion of GAAN triplets (N> 100 repeats) located in
intron 1 of the FXN gene, present on the two alleles, and, in the rest of the cases, by an
associated expansion a point mutation or a deletion in trans. During molecular diagnostics,
it is not uncommon to find the presence of interruptions within the GAA expansion. This
results in the absence and / or the shift of peak (s) within the chromatogram.
To date, only the partial correlation between the size of the expansion and the age of onset
of Friedreich's ataxia has been established. In particular, very atypical forms of AF with a
late onset (after the age of 25) are in particular explained by the low number of repetitions
in the expansion, typically between 100 and 500 repetitions. However, the presence of an
interruption could stabilize the size of the expansion and, therefore, be mainly associated
with expansions of small sizes and therefore with a late onset of the disease.
The objective of this study is therefore to analyse and caracterize the presence and the type
of interruptions of the GAA expansions in a group of patients with FA ; this data will be
correlated with the age at onset of FA.
n/a
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