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Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!


ABSTRACT: 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 dentatorubral-pallidoluysian atrophy (DRPLA) in his symptomatic father. Polyglutamine expansion defects should be considered when neurodegenerative genetic disease is suspected even in infancy and parkinsonism can be a presentation of infantile-onset DRPLA.

SUBMITTER: Baide-Mairena H 

PROVIDER: S-EPMC10578886 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature

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Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

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]

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