We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Reply to: Partially Levodopa‐Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant.
- Authors
Nardecchia, Francesca; Martinelli, Simone; Pollini, Luca; Leuzzi, Vincenzo
- Abstract
This article discusses a case study of a patient with a novel pathogenic variant in the CLTC gene, who initially presented with a mild neurodevelopmental disorder and later developed parkinsonism. The patient's genotype differed from a previously reported case, suggesting a wide phenotypic spectrum associated with CLTC variants. The presence of brain malformations in this patient suggests a possible connection between neurodevelopmental alterations and parkinsonism. The article also mentions the efficacy of dopamine therapy in improving parkinsonian features, although the effect was transient. The study highlights the importance of including the CLTC gene in multi-gene panels for parkinsonism.
- Subjects
PARKINSONIAN disorders; MOVEMENT disorders; COAT proteins (Viruses); CARBIDOPA
- Publication
Movement Disorders Clinical Practice, 2024, Vol 11, Issue 6, p751
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.14039