Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

Kiely, Aoife P.; Ling, Helen; Asi, Yasmine T.; Kara, Eleanna; Proukakis, Christos; Schapira, Anthony H.; Morris, Huw R.; Roberts, Helen C.; Lubbe, Steven; Limousin, Patricia; Lewis, Patrick A.; Lees, Andrew J.; Quinn, Niall; Hardy, John; Love, Seth; Revesz, Tamas; Houlden, Henry; Holton, Janice L.

doi:10.1186/s13024-015-0038-3

Molecular Neurodegeneration

Table 3 Summary of neuropathological findings

From: Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

Pathology	Case 1 (G51D)	Case 2 (G51D)	Case 3 (G51D)	H50Q	SNCA duplication
Cortical neuronal loss	Widespread. Severe in temporal and insular, moderate in cingulate.	Widespread. Severe in cingulate, moderate in temporal and insular.	Widespread mild	None identified	None identified
Hippocampal neuronal loss	CA2/3 predominant	CA2/3 predominant	CA2 mild	None identified	None identified
Caudate neuronal loss	Mild	Mild	Mild	None identified	None Identified
Brain stem neuronal loss	Substantia nigra, locus coeruleus and dorsal motor nucleus of vagus	Substantia nigra, locus coeruleus and dorsal motor nucleus of vagus	Substantia nigra, locus coeruleus and dorsal motor nucleus of vagus	Substantia nigra^b	Substantia nigra, locus coeruleus and dorsal motor nucleus of vagus
Neuronal α-synuclein pathology	Annular, crescentic, globular, diffuse, NFT-like. Widespread with severe cortical involvement	Annular, crescentic, globular, diffuse, NFT-like. Widespread with severe cortical involvement	Annular, crescentic, globular, diffuse, NFT-like. Widespread with severe cortical involvement	PD type, Braak stage 6	PD type, Braak stage 6
Glial α-synuclein pathology	GCI-like, rarely coiled body type	GCI-like, rarely coiled body type	GCI-like, rarely coiled body type	Absent	Sparse coiled-body type
Phosphorylated tau Braak and Braak stage	II^a	II^a	II^a	III^a	I
Aβ deposition	Absent	Absent	Absent	Frequent diffuse and sparse mature cortical deposits	Sparse diffuse neocortical deposits
TDP-43 pathology	Hippocampus, amygdala, striatum	Hippocampus, amygdala, rare in striatum	Absent	Absent	Absent

PD Parkinson’s disease, NFT neurofibrillary tangle
^a = dentate fascia also affected
^b = locus coeruleus and dorsal motor nucleus of vagus not represented in available sections

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ISSN: 1750-1326

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