Objective: To review the co-occurrence of parkinsonism and tremor syndromes in patients with chromosomic disorders.

Background: The landscape of genetic forms of Parkinson’s diseases (PD) has exponentially grown in recent years, and 10% of DP cases are believed to be associated with a causal or genetic risk variants.  However, the link between parkinsonism or tremor and chromosome disorders, both numerical and structural, has been neglect, even though it can be crucial for a proper diagnostic work-up.

Method: Two independent researchers (VC and LGC) searched PubMed for articles published in until December 2018, using the non-MESH terms: “Cromossomopathy/karyotype/chromosome/aneuploidy/deletion/inversion/insertion/duplication and Parkinson/Parkinsonism/Tremor/Parkinsonian disorder”. We restricted the search to human studies, and selected articles for further analysis after review of the abstract. Articles in languages other than Portuguese, English, French, German and Spanish were excluded. Tremor syndromes in which patients had a clinical reason for syndromes were excluded, as well as tremor syndromes associated with point mutations, imprinting syndromes, and patients presenting with other hyperkinetic disorders. Article reference lists were also reviewed, and relevant articles retrieved for consultation.

Results: 70 papers were reviewed. Numeric abnormalities of sexual chromosomes were the more often reported cases. These patients exhibited more frequently kinetic tremor, commonly described as essential tremor. An association between Down’s Syndrome and PD has also been reported, although in autopsy studies less than half of the patients had alfa-synuclein. As for deletion and duplication syndromes, the more frequent association was PD and 22q11.2 Deletion syndrome but we found reports of kinetic tremor and 6q deletions, 16q11.2 deletion/duplication, 18q- and 1q- syndromes. The treatment used was also reviewed.

Conclusion: Apart from 22q11.2 Deletions syndrome and numeric abnormalities of sexual chromosomes, most literature consists of small case series and case reports, and hence a causal link cannot be established. In the majority of reported cases, the diagnosis was made based on the dysmorphic features or the cognitive and psychiatric disorders the patients also presented.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/tremor-and-parkinsonism-in-chromosomopathies-a-systematic-review/