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- Title
Partially Levodopa‐Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant.
- Authors
Usnich, Tatiana; Becker, Leonie F.; Nagel, Inga; Bäumer, Tobias; Münchau, Alexander
- Abstract
This article discusses a case study of a girl with parkinsonism and developmental delay associated with a variant in the Clathrin heavy chain polypeptide gene (CLTC). The patient showed clinical improvement following Selegiline treatment. Variants in the CLTC gene have been linked to various phenotypes, including developmental delay, hypotonia, epilepsy, and movement disorders. The article highlights the importance of considering pathogenic variants in the CLTC gene as a potential cause of parkinsonism and suggests alternative treatments, such as Amantadine, for managing symptoms.
- Subjects
PARKINSONIAN disorders; MOVEMENT disorders; INFORMED consent (Medical law); PARKINSON'S disease; EPILEPSY; FINE motor ability
- Publication
Movement Disorders Clinical Practice, 2024, Vol 11, Issue 6, p749
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.14037