Ontology highlight
ABSTRACT:
SUBMITTER: Baide-Mairena H
PROVIDER: S-EPMC10578886 | biostudies-literature | 2023 Oct
REPOSITORIES: biostudies-literature
Baide-Mairena Heidy H Coget Arthur A Leboucq Nicolas N Procaccio Vincent V Blanluet Maud M Meyer Pierre P Malinge Marie-Claire MC François-Heude Marie-Céline MC Moreno Mathis M Geneviève David D Marelli Cecilia C Roubertie Agathe A
Annals of clinical and translational neurology 20230725 10
We present the phenotype of an infant with the largest ATN1 CAG expansion reported to date (98 repeats). He presented at 4 months with developmental delay, poor eye contact, acquired microcephaly, failure to thrive. He progressively developed dystonia-parkinsonism with paroxysmal oromandibular and limbs dyskinesia and fatal outcome at 17 months. Cerebral MRI disclosed globus pallidus T2-WI hyperintensities and brain atrophy. Molecular analysis was performed post-mortem following the diagnosis of ...[more]