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Parkin related disease (OMIM 602544) is a common cause of autosomal recessive young-onset Parkinson's disease (PD). The motor phenotype encompasses parkinsonian features, dystonia, sustained response to levodopa and slow progression. It has been occasionally reported that patients may present with dystonia at onset.1 Isolated lower limb dystonia is a typical presentation of early-onset generalised dystonia, often indicating a DYT1 carrier status. DYT1 and non-DYT1 cases have also been described with onset in adulthood. It is presently unknown in how many such cases dystonia may be the presenting feature of Parkin disease.
We observed a series of Parkin gene mutation carriers who had isolated limb dystonia as the presenting feature of their disorder that lasted for several years before parkinsonian features developed. We report the clinical description of eight such cases; four patients are illustrated in the online supplementary video. Parkin gene mutations were detected according to standard procedures.2 Eight had isolated dystonia at onset. These subjects had full neurological evaluation …
Contributors AEE, AA, FDS, LMR, BG and CB: conception and design, analysis and interpretation of data. AA, AEE, FDS and LMR: performed clinical assessment of patients and acquisition of data. AEE and FDS performed literature review and drafted the paper. BG and CB carried on the genetic studies. AEE, AA, FDS, LMR, BG and CB critically revised the paper for intellectual content and final approved the version to be submitted for publication.
Funding Supported by Ministry of Health grant GR-2009-1607326 to AEE and by COST Action BM1101 to AA.
Competing interests None.
Patient consent Obtained.
Ethics approval Ethics Committee.
Provenance and peer review Not commissioned; externally peer reviewed.