Objective: To summarize and curate all published clinical data on x-chromosomal dystonia-parkinsonism (XDP) patients; identify relevant researches working on XDP and contact them for additional unpublished clinical data; establish a protected login area for unpublished data on the MDSGene database to promote exchange between researchers.

Background: The MDSGene database was founded with the aim to merge and spread knowledge of genetic movement disorders. For 35 genes, clinical and genetic information of all published cases has been collected, curated and included in the database.

Method: We performed a standardized PubMed literature search, identifying publications referencing TAF1 mutations. Articles were reviewed for individual clinical data of genetically confirmed mutation carriers. Clinical data were systematically abstracted, curated and included in the MDSGene database (www.mdsgene.org). Unpublished data provided by XDP research groups were systematically summarized and displayed in a separate area on the database.

Results: Clinical data of 483 XDP patients described in the literature, and additionally, unpublished data of 132 patients were collected. All patients originated from the Philippines and were male in all but three cases. The median age of onset was 40 years (interquartile range:35 – 46 years). In 41% of the published patients and 4% of the unpublished cases, there was no information regarding symptom onset with dystonia or parkinsonism. Overall, the unpublished data was significantly more comprehensive than the published data. In 54% of published and 77% of unpublished cases, the initial presentation were dystonic symptoms. Only 2%/14% first presented with parkinsonism. Of the patients suffering from dystonia, 54%/77% presented with craniocervical, 42%/33% with limb and 16%/5% with truncal dystonia.

Conclusion: For the first time, a comprehensive collection of all published clinical data of XDP patients is available, extended with clinical data of unpublished cases. The comparison between published and unpublished data highlights the problem of data missingness in published clinical data and also revealed differences between frequencies of specific signs and symptoms. Systematic and comprehensive genotype-phenotype correlations are a prerequisite for genetic counseling and, in the future, for stratification of patients for clinical trials.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/x-chromosomal-dystonia-parkinsonism-a-systematic-review-of-published-and-unpublished-clinical-data/