PMC9513026_01
Pedigree of the family with dentatorubral-pallidoluysian atrophy (DRPLA), including the four patients in this study. Pedigree of the family with DRPLA showing generations (Roman numerals) of affected (solid symbols) and unaffected (open symbols) members. Roman numerals represent generation numbers. Squares indicate male members; circles, female members; P, proband; oblique, deceased; optic A, optic atrophy; corneal D, corneal endothelial degeneration. Genetic analysis (E+) shows the expanded allele of CAG repeats at the DRPLA locus (III-5, III-10, IV-1, and IV-3).
fneur-13-953787-g0001.jpg
PMC9513026_05_fneur-13-953787-g0001.jpg
F1
However, the specular microscopy revealed corneal guttata and pleomorphic cellular patterns of endothelial structures in both eyes (Supplementary Figures 1A,B). In addition, the OCT revealed RNFL thinning in the right eye (average RNFL thickness: 46 mum), corresponding to optic nerve atrophy (Supplementary Figure 1C).
PMC9513026_02
Magnetic resonance imaging (MRI) findings in the present four patients. (A) Patient 1 (III-10). Fluid attenuated inversion recovery images of the MRI show diffuse cerebellar and brainstem atrophy, as well as high-intensity signals in the diffuse periventricular white matter. (B) Patient 2 (III-5). MRI shows diffuse cerebellar and brainstem atrophy, as well as high-intensity signals in the diffuse periventricular white matter. (C) Patient 3 (IV-3). MRI shows diffuse cerebellar and brainstem atrophy without white matter changes. (D) Patient 4 (IV-1). MRI shows diffuse cerebellar atrophy without periventricular white matter changes.
fneur-13-953787-g0002.jpg
PMC9513026_07_fneur-13-953787-g0002.jpg
F2
An MRI revealed diffuse cerebellar atrophy without periventricular white matter changes (Figure 2D).
PMC9513026_03
Endothelial corneal cell density (ECD) and circumpapillary retinal nerve fiber layer (RNFL) in Patient 1 (III-10). Specular microscopy (FA-3609, Konan Medical, Inc. Japan) shows (B) corneal guttata, (A,B) pleomorphic cellular patterns of endothelial structures, and (B) rounded dark cells with light borders. The corneal cell density is 483 and 444 cells/mm2 in the (A) right and (B) left eyes, respectively. (C-E) An optical coherence tomography (OCT: 3D CT-2000, Topcon Medical Japan, Co. Ltd, Japan) indicates the ocular fundus color photograph, RNFL thickness map, super Pixel-200 image, and RNFL values in the circular areas. An OCT shows RNFL thinning in the superior (55 mum) and inferior (57 mum) areas of the (C) right eye and inferior area (84 mum) of the (E) left eye.
fneur-13-953787-g0003.jpg
PMC9513026_08_fneur-13-953787-g0003.jpg
F3
Corneal ECD had decreased to 917 and 532 cells/mm2, CV to 46 and 34%, and HEX to 23 and 39% in the right and left eyes, respectively (Supplementary Figures 3A,B). The OCT showed thinning of the RNFL in the inferior part of the optic nerve papilla (Supplementary Figures 3C,D); however, this was unreliable because the optic disk was tilted owing to high myopia.
PMC9513026_04
Magnetic resonance imaging (MRI) findings in the present four patients. (A) Patient 1 (III-10). Fluid attenuated inversion recovery images of the MRI show diffuse cerebellar and brainstem atrophy, as well as high-intensity signals in the diffuse periventricular white matter. (B) Patient 2 (III-5). MRI shows diffuse cerebellar and brainstem atrophy, as well as high-intensity signals in the diffuse periventricular white matter. (C) Patient 3 (IV-3). MRI shows diffuse cerebellar and brainstem atrophy without white matter changes. (D) Patient 4 (IV-1). MRI shows diffuse cerebellar atrophy without periventricular white matter changes.
fneur-13-953787-g0002.jpg
PMC9513026_07_fneur-13-953787-g0002.jpg
F2
An MRI revealed diffuse cerebellar atrophy without periventricular white matter changes (Figure 2D).
PMC9513026_05
Pedigree of the family with dentatorubral-pallidoluysian atrophy (DRPLA), including the four patients in this study. Pedigree of the family with DRPLA showing generations (Roman numerals) of affected (solid symbols) and unaffected (open symbols) members. Roman numerals represent generation numbers. Squares indicate male members; circles, female members; P, proband; oblique, deceased; optic A, optic atrophy; corneal D, corneal endothelial degeneration. Genetic analysis (E+) shows the expanded allele of CAG repeats at the DRPLA locus (III-5, III-10, IV-1, and IV-3).
fneur-13-953787-g0001.jpg
PMC9513026_05_fneur-13-953787-g0001.jpg
F1
However, the specular microscopy revealed corneal guttata and pleomorphic cellular patterns of endothelial structures in both eyes (Supplementary Figures 1A,B). In addition, the OCT revealed RNFL thinning in the right eye (average RNFL thickness: 46 mum), corresponding to optic nerve atrophy (Supplementary Figure 1C).
PMC9513026_06
Magnetic resonance imaging (MRI) findings in the present four patients. (A) Patient 1 (III-10). Fluid attenuated inversion recovery images of the MRI show diffuse cerebellar and brainstem atrophy, as well as high-intensity signals in the diffuse periventricular white matter. (B) Patient 2 (III-5). MRI shows diffuse cerebellar and brainstem atrophy, as well as high-intensity signals in the diffuse periventricular white matter. (C) Patient 3 (IV-3). MRI shows diffuse cerebellar and brainstem atrophy without white matter changes. (D) Patient 4 (IV-1). MRI shows diffuse cerebellar atrophy without periventricular white matter changes.
fneur-13-953787-g0002.jpg
PMC9513026_07_fneur-13-953787-g0002.jpg
F2
An MRI revealed diffuse cerebellar atrophy without periventricular white matter changes (Figure 2D).
PMC9513026_07
Magnetic resonance imaging (MRI) findings in the present four patients. (A) Patient 1 (III-10). Fluid attenuated inversion recovery images of the MRI show diffuse cerebellar and brainstem atrophy, as well as high-intensity signals in the diffuse periventricular white matter. (B) Patient 2 (III-5). MRI shows diffuse cerebellar and brainstem atrophy, as well as high-intensity signals in the diffuse periventricular white matter. (C) Patient 3 (IV-3). MRI shows diffuse cerebellar and brainstem atrophy without white matter changes. (D) Patient 4 (IV-1). MRI shows diffuse cerebellar atrophy without periventricular white matter changes.
fneur-13-953787-g0002.jpg
PMC9513026_07_fneur-13-953787-g0002.jpg
F2
An MRI revealed diffuse cerebellar atrophy without periventricular white matter changes (Figure 2D).
PMC9513026_08
Endothelial corneal cell density (ECD) and circumpapillary retinal nerve fiber layer (RNFL) in Patient 1 (III-10). Specular microscopy (FA-3609, Konan Medical, Inc. Japan) shows (B) corneal guttata, (A,B) pleomorphic cellular patterns of endothelial structures, and (B) rounded dark cells with light borders. The corneal cell density is 483 and 444 cells/mm2 in the (A) right and (B) left eyes, respectively. (C-E) An optical coherence tomography (OCT: 3D CT-2000, Topcon Medical Japan, Co. Ltd, Japan) indicates the ocular fundus color photograph, RNFL thickness map, super Pixel-200 image, and RNFL values in the circular areas. An OCT shows RNFL thinning in the superior (55 mum) and inferior (57 mum) areas of the (C) right eye and inferior area (84 mum) of the (E) left eye.
fneur-13-953787-g0003.jpg
PMC9513026_08_fneur-13-953787-g0003.jpg
F3
Corneal ECD had decreased to 917 and 532 cells/mm2, CV to 46 and 34%, and HEX to 23 and 39% in the right and left eyes, respectively (Supplementary Figures 3A,B). The OCT showed thinning of the RNFL in the inferior part of the optic nerve papilla (Supplementary Figures 3C,D); however, this was unreliable because the optic disk was tilted owing to high myopia.