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Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation
Vincent Zimmern1, Florence Riant2, Emmanuel Roze3
1Division of Pediatric Neurology, University of Texas Southwestern, Dallas, Texas, United States.
Neuropediatrics
|June 22, 2019
Summary
Mutations in the TBC1D24 gene cause various neurological disorders. This case highlights TBC1D24 variants linked to infantile-onset myoclonus and cerebellar abnormalities in a child.
Area of Science:
- Genetics
- Neuroscience
- Pediatrics
Background:
- The TBC1D24 gene encodes a presynaptic protein.
- TBC1D24 mutations are associated with epilepsy, chronic encephalopathy, DOORS syndrome, hearing loss, and myoclonus.
Observation:
- A 22-month-old male presented with infantile-onset paroxysmal facial and limb myoclonus.
- Genetic analysis revealed compound heterozygous variants in TBC1D24 (c.304C>T/p.Pro102Ser and c.410T>C/p.Val137Ala), inherited from each parent.
- Adolescent follow-up imaging showed widened cerebellar sulci.
Findings:
- The identified TBC1D24 variants provide a genetic explanation for the patient's myoclonus.
- This case expands the known phenotypic spectrum of TBC1D24-related disorders to include childhood-onset movement disorders.
Implications:
- This case contributes to the understanding of TBC1D24's role in neurological development and function.
- Further research into TBC1D24 variants may reveal new therapeutic targets for pediatric neurological movement disorders.
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