Clinical Utility of Skin Biopsy Compared to DaTscan in Diagnosing Synucleinopathies (P3-11.001)

Abstract

<h3>Objective:</h3> To compare the utility of skin biopsy versus DaTscan in supporting a diagnosis of a synucleinopathy. <h3>Background:</h3> Though the diagnosis of synucleinopathies (Lewy Body Dementia, Parkinson’s disease, Multiple System Atrophy, Pure Autonomic Failure) is clinical, there are supportive tests that can aid in the diagnosis. SPECT imaging with DaTscan (Ioflupane 123-I SPECT) identifies pre-synaptic dopaminergic deficits, which helps distinguish neurodegenerative parkinsonian syndromes from non-dopamine deficiency disorders. Skin biopsy in identifies the presence of phosphorylated synuclein (p-syn) within cutaneous nerves, and can help distinguish synucleinopathies from other atypical parkinsonian syndromes and non-parkinsonian disorders. <h3>Design/Methods:</h3> 24 patients were identified that were seen in the movement disorders clinic for possible parkinsonism. All patients underwent a DaTscan and a skin biopsy (3 small punch biopsies in the cervical area, thigh and leg). DaTscan and skin biopsy results were compared to clinician’s suspected diagnosis (prior to testing, synucleinopathy vs other disorder) to assess diagnostic efficacy. <h3>Results:</h3> DaTscan results were congruent with clinician’s suspected diagnosis in 15/24 cases (62.5%). Skin biopsy results were congruent with clinician’s suspected diagnosis in 20/24 cases (83.3%). In two cases, the skin biopsy was positive for p-syn deposition where a synucleinopathy was not suspected. In 8 patients where the DaTscan was negative but clinician suspicion for a synucleinopathy was high, skin biopsies were positive. <h3>Conclusions:</h3> Skin biopsy had greater diagnostic accuracy than the DaTscan when compared to the clinician’s suspected pre-testing diagnosis. This suggests that performing skin biopsies (minimally invasive, lower cost, can be done in the office) may be of higher diagnostic utility than a DaTscan. <b>Disclosure:</b> Dr. Urval has nothing to disclose. Dr. Meytin has nothing to disclose. Dr. Dorfman has nothing to disclose. Dr. Lahrmann has nothing to disclose. Dr. Bortan has nothing to disclose. Dr. Dagostine has received personal compensation for serving as an employee of Adamas. Dr. Dagostine has received personal compensation for serving as an employee of Neurocrine. Dr. Dagostine has received personal compensation for serving as an employee of Boston Scientific. Dr. Dagostine has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Adamas. Dr. Dagostine has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Neurocrine. Dr. Dagostine has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Adamas. Dr. Dagostine has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Neurocrine. Dr. Duffy has stock in Meru Health. An immediate family member of Dr. Moro-de-Casillas has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Medtronic. An immediate family member of Dr. Moro-de-Casillas has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Intuitive. The institution of Dr. Moro-de-Casillas has received research support from Davis Phinney Foundation. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Supernus. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurocrine. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Abbvie. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Adamas. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Ipsen. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Kyowa Kirin. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Merz. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Neurocrine. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sunovion. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Teva. Dr. Kanchana has nothing to disclose. Dr. DeMarcaida has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Abbvie. Dr. DeMarcaida has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Teva. Dr. DeMarcaida has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Acorda. Dr. DeMarcaida has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Kyowa Kirin. The institution of Dr. DeMarcaida has received research support from Pharma2B. The institution of Dr. DeMarcaida has received research support from Neuroderm. The institution of Dr. DeMarcaida has received research support from Addex.