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http://purl.uniprot.org/citations/25150291http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25150291http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To test the hypothesis that adult-onset primary dystonia may be the underlying etiology of tremulous patients with clinical diagnosis of Parkinson disease (PD) but without evidence of dopaminergic deficit at nigrostriatal SPECT imaging.

Methods

We retrospectively reviewed clinical and imaging data of patients with clinical diagnosis of PD assessed at our tertiary movement disorder clinic, who underwent dopamine transporter SPECT imaging consecutively between 2002 and 2011. Molecular screening for DYT1, DYT5, DYT6, DYT11, and DYT16 dystonia genes was performed in all cases who met the following criteria at the time of SPECT scan: (1) clinical diagnosis of PD; (2) normal dopamine transporter SPECT; (3) asymmetric rest tremor, with or without postural/kinetic component; (4) ≥ 12-month follow-up; and (5) normal brain MRI. We excluded subjects with (6) overt dystonic features, and (7) head or voice tremor.

Results

Twenty-three subjects were eligible for molecular analysis. Positive family history for tremor or PD was present in 45% of probands. We found one patient with a novel heterozygous frameshift mutation in the DYT11 gene (c.1058-1062 delCACCA/p.Gln352fsX376). Electrophysiologic study of tremor revealed that the main contributor was 5-to 6-Hz pseudo-rhythmic myoclonus, primarily involving extensor muscles. In 2 brothers, we found a missense variant in the DYT5 gene (c.334A>G; p.Thr112Ala) of uncertain pathogenicity in humans.

Conclusion

Our findings provide further support to the hypothesis that adult-onset monogenic dystonia may underlie a "PD look-alike" clinical phenotype. In addition to dystonic tremor, pseudo-rhythmic myoclonus may be mischaracterized as "rest tremor.""xsd:string
http://purl.uniprot.org/citations/25150291http://purl.org/dc/terms/identifier"doi:10.1212/wnl.0000000000000821"xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Muzi-Falconi M."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Nasca A."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Garavaglia B."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Goldwurm S."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Castagna A."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Reale C."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Pezzoli G."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Sacilotto G."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Barzaghi C."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Marotta G."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Cilia R."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Granata M."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Marzegan A."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/author"Vallauri D."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/name"Neurology"xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/pages"1155-1162"xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/title"Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia."xsd:string
http://purl.uniprot.org/citations/25150291http://purl.uniprot.org/core/volume"83"xsd:string
http://purl.uniprot.org/citations/25150291http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/25150291
http://purl.uniprot.org/citations/25150291http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/25150291
http://purl.uniprot.org/uniprot/#_A0A2R8YGQ3-mappedCitation-25150291http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/25150291
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