Superficial siderosis associated with abundant τ and α-synuclein accumulation.
A Japanese male developed deafness, pyramidal signs and ataxia at age 50. A cerebrospinal fluid examination showed elevated levels of iron, transferrin and ferritin. Brain MRI showed atrophy of the cerebellum and pons as well as potential iron deposits on the surface of the brain. At autopsy, the brain weighed 1090 g and showed severe atrophy and necrosis of the cerebellum. No vascular malformation was observed. Extensive deposits of hemosiderin that were well stained with Berlin blue and ferritin immunohistochemistry were present at the surface and in the superficial layers of the cerebrum, brainstem, cerebellum and spinal cord. In these regions, numerous AT8 (p-τ)-immunopositive deposits were present in neurons and glia. In addition, phosphorylated α-synuclein-immunopositive Lewy bodies and neurites were observed in the brainstem nuclei. In the present report, the authors derive the novel insight that superficial siderosis is a distinctive entity associated with tauopathy and synucleinopathy.
Neuropathology Department, Tokyo Metropolitan Institue of Gerontology, Itabashi, Tokyo, Japan. mtakao@tmig.or.jp
Masaki
M
Takao
Shigeo
S
Murayama
Youji
Y
Yoshida
Ban
B
Mihara
D000368:Aged; D001284:Atrophy / Q000175:diagnosis; D001344:Autopsy; D002490:Central Nervous System / Q000378:metabolism*; D054022:Cerebrum / Q000473:pathology; D017809:Fatal Outcome; D005293:Ferritins / Q000134:cerebrospinal fluid; D006485:Hemosiderin / Q000378:metabolism; D006486:Hemosiderosis / Q000134:cerebrospinal fluid / Q000150:complications / Q000378:metabolism*; D006801:Humans; D007501:Iron / Q000134:cerebrospinal fluid; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D051843:Synucleins / Q000378:metabolism*; D014168:Transferrin / Q000134:cerebrospinal fluid; D051844:alpha-Synuclein / Q000378:metabolism*
C497604:SNCA protein, human; D051843:Synucleins; D014168:Transferrin; D051844:alpha-Synuclein; D005293:Ferritins; D006485:Hemosiderin; D007501:Iron