Abstract Details

Title Clinical Utility of Skin Biopsy Compared to DaTscan in Diagnosing Synucleinopathies

Topic Movement Disorders

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 5-001

Objective To compare the utility of skin biopsy versus DaTscan in supporting a diagnosis of a synucleinopathy.

Background 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.

Design/Methods

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.

Results 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.

Conclusions

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.

Authors/Disclosures
Nikita Urval, MD (Butler Medical Providers) PRESENTER	Dr. Urval has nothing to disclose.
Leon Meytin, MD (Hartford Healthcare)	Dr. Meytin has nothing to disclose.
Benjamin J. Dorfman, MD (Hartford HealthCare)	Dr. Dorfman has nothing to disclose.
Jeffrey Lahrmann, MD (Chase Family Movement Disorders Center, Hartford Healthcare Medical Group)	Dr. Lahrmann has nothing to disclose.
Elena Bortan, MD (Hartford Health Care - CFMDC)	Dr. Bortan has nothing to disclose.
Michelle M. Dagostine, MD (Hartford HealthCare - Ayer Neuroscience Institute)	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.
	No disclosure on file
Maria L. Moro-de-Casillas, MD (Chase Family Movement Disorders Center)	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.
Duarte G. Machado, MD, FAAN (Hartford Healthcare Neurology)	Dr. Machado has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Medtronic. Dr. Machado has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amneal.
Sulada Kanchana, MD, PhD	Dr. Kanchana has nothing to disclose.
Joy A. DeMarcaida, MD (Hartford Healthcare Movement Disorders Center)	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 Sage Therapeutics.

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