AI Article Synopsis
- The study aimed to explore the characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to assess how effective preventive treatments are.
- Researchers analyzed clinical information from multiple generations of patients with the PRRT2 mutation, comparing their data to a group of 17 patients from six families.
- The findings indicated that FHM typically starts in the teenage years, with some patients experiencing spontaneous remission; low-dose carbamazepine was found to be effective in some cases, suggesting the need for more research to clarify PRRT2's role and standardize treatment.
Article Abstract
Objective: To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive treatment.
Methods: Using the literature, we investigated clinical details of FHM in 3 generations of patients with a PRRT2 mutation and compared them with those in 17 patients with the same mutation from 6 families.
Results: In most of the affected patients, the onset was observed during the teen years. Complicated phenotypes tended to be shared in each family, and five patients showed spontaneous remission. With regard to treatment, low-dose carbamazepine (CBZ) was effective in three patients.
Conclusion: Considering the clinical features, we suggest that low-dose CBZ is efficacious for FHM treatment in patients with a PRRT2 mutation. The treatment duration should be carefully considered because some patients show spontaneous remission. More accumulated data from familial cases might help elucidate PRRT2 function and establish standard treatment for FHM.
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| http://dx.doi.org/10.1016/j.braindev.2019.12.007 | DOI Listing |
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