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Abstract
Objective: To test if phosphorylated α-synuclein (p-α-syn) deposits can be detected by means of skin biopsy in patients with idiopathic REM sleep behavior disorder (iRBD) as a potential early histopathologic marker of impending synucleinopathy.
Methods: Proximal (cervical) and distal (legs) samples of skin biopsy were obtained from 12 patients with polysomnographically confirmed iRBD and 55 sex- and age-matched healthy controls (HC). P-α-syn deposits were assessed with a monoclonal antibody against p-α-syn at serine 129, disclosed by an immunofluorescence method. In addition, patients underwent an extensive workup in order to search for nonmotor symptoms and neuroimaging findings usually associated with impending neurodegeneration and to exclude subtle motor or cognitive signs.
Results: P-α-syn deposits were detected in 9 (75%) out of 12 patients with iRBD and none of the HC. In iRBD, the sensitivity of the test was higher at the cervical site (67%) when compared to the leg site (58%).
Conclusions: Our preliminary findings suggest that skin biopsy in patients with iRBD might be a safe and sensitive procedure to be further tested in order to detect p-α-syn deposits in the premotor stage of synucleinopathies.
Classification of evidence: This study provides Class III evidence that p-α-syn skin deposits identify patients with iRBD.
GLOSSARY
- CPAP=
- continuous positive airway pressure;
- HC=
- healthy controls;
- iRBD=
- idiopathic REM sleep behavior disorder;
- NMS=
- nonmotor symptoms;
- OSAS=
- obstructive sleep apnea syndrome;
- p-α-syn=
- phosphorylated α-synuclein;
- PD=
- Parkinson disease;
- PGP=
- protein gene product;
- PSG=
- polysomnography;
- RBD=
- REM sleep behavior disorder
Footnotes
↵* These authors contributed equally to this work.
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
- Received October 3, 2016.
- Accepted in final form January 27, 2017.
- © 2017 American Academy of Neurology
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