PDF herunterladen
Neuropediatrics 2021; 52(05): 377-382
DOI: 10.1055/s-0040-1722686
Original Article

Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition

Authors

  • Sandy Siegert

    1   Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria

  • Wolfgang M. Schmidt

    2   Neuromuscular Research Department, Medical University of Vienna, Austria

  • Thomas Pletschko

    1   Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria

  • Reginald E. Bittner

    2   Neuromuscular Research Department, Medical University of Vienna, Austria

  • Sonja Gobara

    3   Ambulatorium Sonnenschein, Sozialpädiatrisches Zentrum, St. Pölten, Austria

  • Michael Freilinger

    1   Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria

Funding M.F. reports personal fees from Novartis outside the submitted work. T.P. reports grants from Austrian Childhood Cancer Organization, Austrian Childhood Cancer Organization-Parents' Initiative, Gemeinsame Gesundheitsziele aus dem Rahmen-Pharmavertrag, NF-Kinder, Occursus, and 42virtual outside the submitted work. W.M.S. reports personal fees from AveXis Inc. and PTC Therapeutics Inc. outside the submitted work.
Weitere Informationen
Auch verfügbar auf
   Lizenzen und Reprints
Preview

Abstract

Background Recent research suggested an hippocalcin (HPCA)-related form of DYT2-like autosomal recessive dystonia. Two reports highlight a broad spectrum of the clinical phenotype. Here, we describe a novel HPCA gene variant in a pediatric patient and two affected relatives.

Methods Whole exome sequencing was applied after a thorough clinical and neurological examination of the index patient and her family members. Results of neuropsychological testing were analyzed.

Results Whole exome sequencing revealed a novel homozygous missense variant in the HPCA gene [c.182C>T p.(Ala61Val)] in our pediatric patient and the two affected family members. Clinically, the cases presented with dystonia, dysarthria, and jerky movements. We observed a particular cognitive profile with executive dysfunctions in our patient, which corresponds to the cognitive deficits that have been observed in the patients previously described.

Conclusion We present a novel genetic variant of the HPCA gene associated with autosomal recessive dystonia in a child with childhood-onset dystonia supporting its clinical features. Furthermore, we propose specific HPCA-related cognitive changes in homozygous carriers, underlining the importance of undertaking a systematic assessment of cognition in HPCA-related dystonia.

Keywords

hippocalcin - inherited dystonia - cognition


Publikationsverlauf

Eingereicht: 08. Juli 2020

Angenommen: 23. Oktober 2020

Artikel online veröffentlicht:
28. Januar 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany