Neuropathology and molecular diagnosis of Synucleinopathies

Table 3 Studies on α-synuclein RT-QuIC using peripheral tissue samples

Author	Tissue	Autopsy	Disease	N	N Control	Sensitivity	Specificity
De Luca [250]	OM	No	PD	18	18	56%	83%
De Luca [250]	OM	No	MSA	11	18	82%	83%
Manne [251]	SMG	Yes	PD	13	16	100%	94%
Manne [251]	SMG	Yes	ILBD	3	16	100%	94%
Wang [252]	Abdominal skin	Yes	PD	47	73	94%	93%
			Lewy body dementia	7	73	100%	93%
			MSA	3	73	67%	93%
	Biopsy skin *¹	No	PD	20	21	95%	100%
Manne [253]	Frozen skin *²	Yes	PD	25	25	96%	96%
Manne [253]	FFPE skin *²	Yes	PD	12	12	75%	83%
Mammana [254]	Skin *³	Yes	PD/DLB	2	40	100%	98%
		Yes	ILBD	7	40	86%	98%
		No	DLB	15	41	100%	95%
		No	PD	13	41	77%	95%
Stefani [255]	OM	No	IRBD	63	59	44%	90%
Stefani [255]	OM	No	PD	41	59	46%	90%
Perra [249]	OM	No	DLB	43	38	81%	92%

*1 Biopsy skin samples are obtained from the leg or posterior cervical region. *2 The scalp skin is collected from the posterior lower occipital region along the midline. *3 Skin punches are collected from the cervical region and/or thigh. Abbreviations: FFPE Formalin-fixed paraffin-embedded, ILBD Incidental Lewy body disease, IRBD Isolated rapid eye movement sleep behavior disorder, MSA Multiple system atrophy, PD Parkinson’s disease, OM Olfactory mucosa, SMG Submandibular glands

ISSN: 1750-1326