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. 2021 Feb 17;41(1):3–20. doi: 10.1111/neup.12721

Table 1.

Overview of included studies

Author, year, reference ID No. P (M:F) Age at death (mean ± SD in years) DM1 disease class ‡ (c:i:j:a:lo) No. HC No. DC Brain areas Histopathological changes evaluated
Rosman, 1967 13 1 4 (2:2) 47 ± 7 ? 0 0 CC Neuronal heterotopia; disordered lamination
Culebras, 1973 14 2 6 (4:2) 48 ± 9 ‐:‐:+:+:‐ 0 3 CC Neuronal heterotopia; disordered lamination; astrocytes
Thalamus IIB
Wisniewski, 1975 15 3 1 (0:1) 48 ‐:‐:‐:‐:+ 0 0 Thalamus IIB
Sarnat, 1976 16 4 4 (1:3) 0 † +:‐:‐:‐:‐ 0 0 CC Neuronal size
WM Gliosis
Pena, 1980 17 5 2 (2:0) 0; 62 +:?:?:?:? 40 0 Thalamus IIB
Young, 1981 18 6 4 (3:1) 0 +:‐:‐:‐:‐ 0 0 WM Gliosis
BS: medullary pyramids Gliosis
Ono § , 1989 19 7 4 (2:2) 62 ± 4 ? 8 8 Thalamus IIB
SN IIB; MB
HPC NFT; GVD; plaques
Yoshimura, 1990 20 8 1 (1:0) 61 ‐:‐:‐:+:‐ 3 0 CC; hypothalamus; NBM; BG; HPC; amygdala; BS; CB; olfactory bulb Neuronal loss; neuronal size; neuronal degeneration; gliosis; NFT; plaques
Thalamus IIB; neuronal size; neuronal degeneration; gliosis
Garcia‐Alix, 1991 21 9 4 (4:0) 0 † +:‐:‐:‐:‐ 0 0 WM Neuronal heterotopia; necrosis; hemorrhage; astrocytes
CB Neuronal heterotopia
Kiuchi, 1991 22 10 7 (4:3) 49 ± 8 ? 18 0 CC: limbic cortex NFT; plaques
HPC Neuronal loss
BS: LC, raphe nuclei; WM NFT
Hageman, 1993 23 11 5 (3:2) 0; 4 +:‐:‐:‐:‐ 0 0 WM Periventricular leukomalacia
Thalamus IIB
Moriuchi, 1993 24 12 17 (?:?) 50 ±? ? 0 312 CC Neuronal loss
? NFT
Abe, 1994 25 13 1 (0:1) 54 ? 0 0 CC; BS Neuronal loss
WM Myelin loss
Oyanagi, 1994 26 14 5 (2:3) 53 ± 9 ? 24 0 CC: temporal NFT; GVD; Hirano; plaques
Thalamus IIB
BG IIB; NFT
SN IIB; MB
Lidang Jensen, 1995 27 15 2 (1:1) 0 † +:‐:‐:‐:‐ 0 0 CC Neuronal size; neuronal heterotopia
BS: hypoglossal nucleus Neuronal size
Ono § , 1995 28 16 7 (4:3) 62 ± 5 ? 8 0 BS: raphe nuclei Neuronal size; gliosis
Ono § , 1995 29 17 1 (0:1) 53 ‐:‐:‐:+:‐ 0 0 BS: raphe nuclei, MRF Neuronal size; gliosis
Ono § , 1996 30 18 7 (4:3) 62 ± 5 ? 8 0 BS: MRF Neuronal loss
Ono § , 1996 31 19 8 (5:3) 62 ± 4 ? 0 9 thalamus IIB
Vermersch, 1996 32 20 2 (2:0) 53; 61 ‐:+:‐:+:‐ 20 ? CC: entorhinal, inferior temporal NFT; plaques
thalamus; BG IIB
HPC; BS; amygdala NFT
Ono, 1997 33 21 8 (5:3) 62 ± 4 ? 8 9 SN IIB
Watanabe, 1997 34 22 1 (1:0) 48 +:‐:‐:‐:‐ 0 9 CC Neuronal loss; neuronal size; neuronal heterotopia; gliosis; NFT; plaques
Thalamus IIB
Amygdala NFT
HPC, NBM Neuronal size
BS: SN NFT; gliosis; MB
WM Neuronal heterotopia
Ono § , 1998 35 23 8 (4:4) 63 ±? ? 12 0 BS: raphe nuclei Neuronal size
Ono § , 1998 36 24 8 (4:4) 63 ±? ? 10 0 BS: MRF Neuronal size
Mizukami, 1999 37 25 1 (1:0) 58 ? 0 0 CC: entorhinal cortex Neuronal loss; neuronal size; astrocytes; NFT
Thalamus IIB
BS: SN, pons: LC, medulla Neuronal size; Lewy bodies
CB: ventral hemisphere Neuronal loss; gliosis
NBM Neuronal loss; gliosis; NFT
WM Myelin loss; axonal loss; neuronal neuronal heterotopia
Spillantini, 1999 38 26 1 (0:1) 54 ? 2 10 HPC NFT; plaques
Endo, 2000 39 27 11 (7:4) +:‐:‐:+:‐ 30 0 CC Neuronal heterotopia; disordered lamination; NFT
Thalamus NFT; IIB
BG; BS NFT; neuronal heterotopia
CB Neuronal heterotopia
WM Periventricular leukomalacia
Kawashima, 2000 40 28 6 (3:3) 59 ± 12 ? 40 59 BG SLI
Ono § , 2001 41 29 8 (4:4) 63 ± 5 ? 8 10 CC; HPC; CB; BS: medullary arcuate nucleus Neuronal size; neuronal loss
Kumada, 2002 42 30 7 (4:3) 53 ± 10 ? 10 0 thalamus; CB; CC Intranuclear inclusions
SN Neuronal size; gliosis; MB
Maurage, 2003 43 31 3 (3:0) 64 ± 2 ? 15 32 CC NFT
WM NFT
Jiang, 2004 44 32 10 (7:3) 56 ±? ‐:‐:‐:+:+ 6 7 CC; CB; HPC; thalamus; WM: subcortical, corpus callosum; BS: SN, tegmentum RNA foci
Maurage, 2005 45 33 3 (3:0) 59 ± 6 +:‐:‐:+:‐ 3 2 CC: entorhinal; HPC; BS – LC, SN; CB NFT
SN MB
Yamazaki, 2005 46 34 5 (3:2) 54 ± 20 ? 0 101 WM: frontal Tau‐positive fine granules
Oyamada, 2006 47 35 12 (6:6) 55 ± 8 ? 4 0 CC; HPC: subiculum NFT, plaques
BS: SN, LC, central grey matter NFT, plaques, Lewy bodies
Itoh, 2010 48 36 11 (5:6) 60 ± 5 ? 0 0 CC; CB; BG; HPC; BS Neuronal size
CC: enthorhinal cortex; HPC; amygdala; BS NFT, plaques
Thalamus IIB
SN MB
SN, LC Gliosis, Lewy bodies
Deep WM Gliosis
Dhaenens, 2011 49 37 5 (4:1) 60 ± 4 +:‐:‐:+:‐ 3 0 CC: entorhinal cortex; HPC; amygdala NFT
Yamazaki, 2011 50 38 5 (4:1) 57 ± 6 ? 9 23 HPC NFT; GVD
Nakamori, 2012 51 39 3 (2:1) 55 ± 6 ? 3 4 HPC NFT; GVD
Jinnai, 2013 52 40 9 (5:4) 60 ± 8 ? 0 0 CC: entorhinal cortex; CB Neuronal loss
WM; cerebellar WM Myelin loss; dilate perivascular spaces; axonal loss; gliosis; capillary hyalinization
Entorhinal cortex; HPC NFT; plaques
Michel, 2015 53 41 ? ? +:‐:‐:‐:‐? 0 0 ? RNA foci
†

Study included deceased newborns.

‡

Disease class: congenital‐onset DM1; infantile‐onset DM1; juvenile‐onset DM1, adult‐onset DM1 and late‐onset DM1, 54 according to the authors; + denotes presence, − denotes absence. BG, basal ganglia; BS, brain stem; CB, cerebellum; CC, cerebral cortex; GVD, granulovacuolar degeneration; HPC, hippocampus; IIB, intracytoplasmic inclusion body; LC, locus coeruleus; MB, Marinesco body; MRF, medullary reticular formation; NBM, nucleus basalis of Meynert; NFT, neurofibrillary tangle; SLI, skein‐like inclusions; SN, substantia nigra; WM, white matter.

§

Not all patients in these studies were unique.

DC, disease controls; F, female; HC, healthy controls; M, male; No., number; P, patients.