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Abstrato

A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy

Ouardia Belarbi 1, Hakim Si Ahmed 1, Smail Daoudi 1, Pierre Labauge 2, Carra Dallier Clarisse 2, Schmitt Perrine 2, Sanchez Pauline 2, Séverine Drunate 3, Hélène Cavé3

Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results.

The diagnosis is made by characteristic combination of clinical signs, brain magnetic resonance imaging results and the presence of pathogenic biallelic mutations in specific genes: POLR3A, POLR3B, POLR3C which encode the RNA polymerase III enzyme subunits.

We present the case of a 32-year-old young man who presented with spastic ataxia due to a new rare mutation in the POLR3A gene, splicing variant c.3892-5C> T.

Keywords: POLR3A-related leukodystrophy, ataxo-spasmodic hypomyelinating leukodystrophy, genetics, new mutation variant c.3892-5C> T.