TY - JOUR
T1 - Type I familial amyloid polyneuropathy
T2 - A pathological study of the peripheral nervous system
AU - Sobue, Gen
AU - Nakao, Naoki
AU - Murakami, Ken
AU - Yasuda, Takeshi
AU - Sahashi, Ko
AU - Mitsuma, Terunori
AU - Sasaki, Hiroyuki
AU - Sakaki, Yoshiyuki
AU - Takahashi, Akira
N1 - Funding Information:
general pathology and CNS pathology of both cases. We also thank Drs K. Kumazawa and M. Kayama, Fourth Department Internal Medicine, Aichi Medical University, for their collaboration over the clinical care of the patients. This work was supported by grants from the Ministry of Welfare and Health of Japan.
PY - 1990/8
Y1 - 1990/8
N2 - The neuropathological changes were examined in 2 cases of type I familial amyloid polyneuropathy (FAP), confirmed by a genetic study with human transthyretin (prealbumin) cDNA. These cases were from different foci of type 1 FAP in Japan, but showed a similar pathology in the peripheral nerves. Loss of dorsal root and sympathetic ganglion neurons, predominantly those of small size, was prominent, whereas ventral horn cells were well preserved. Distally accentuated axonal loss with marked axonal sprouting was the principal feature. Fibre sprouts were ubiquitous throughout the nerves and affected the fibre size distribution. Segmental demyelination and remyelination were prominent in the proximal portions of nerves, but axonal degeneration was more conspicuous in the distal portions. The centrally-directed branches of the primary sensory neurons did not show distally-accentuated axonal loss in the dorsal columns. Amyloid deposits were present universally in the endoneurial spaces of the peripheral nerves, but more prominently in the dorsal root ganglia, sympathetic ganglia and more proximal portions of the nerves, and the distribution correlated well with the occurrence of the pathology of peripheral nerves. Neurofilamentous accumulation was frequent in the proximal axons and neuronal cell bodies of the sensory and sympathetic neurons. Schwann cells and satellite cells to which amyloid deposits were attached frequently showed disappearance of basement membrane and proliferation of distorted processes.The findings in the present cases suggest that the Schwann and satellite cells may be directly affected by the amyloid deposits, but the pathogenetic mechanism of marked axonal and neuronal involvement still remains to be elucida.
AB - The neuropathological changes were examined in 2 cases of type I familial amyloid polyneuropathy (FAP), confirmed by a genetic study with human transthyretin (prealbumin) cDNA. These cases were from different foci of type 1 FAP in Japan, but showed a similar pathology in the peripheral nerves. Loss of dorsal root and sympathetic ganglion neurons, predominantly those of small size, was prominent, whereas ventral horn cells were well preserved. Distally accentuated axonal loss with marked axonal sprouting was the principal feature. Fibre sprouts were ubiquitous throughout the nerves and affected the fibre size distribution. Segmental demyelination and remyelination were prominent in the proximal portions of nerves, but axonal degeneration was more conspicuous in the distal portions. The centrally-directed branches of the primary sensory neurons did not show distally-accentuated axonal loss in the dorsal columns. Amyloid deposits were present universally in the endoneurial spaces of the peripheral nerves, but more prominently in the dorsal root ganglia, sympathetic ganglia and more proximal portions of the nerves, and the distribution correlated well with the occurrence of the pathology of peripheral nerves. Neurofilamentous accumulation was frequent in the proximal axons and neuronal cell bodies of the sensory and sympathetic neurons. Schwann cells and satellite cells to which amyloid deposits were attached frequently showed disappearance of basement membrane and proliferation of distorted processes.The findings in the present cases suggest that the Schwann and satellite cells may be directly affected by the amyloid deposits, but the pathogenetic mechanism of marked axonal and neuronal involvement still remains to be elucida.
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U2 - 10.1093/brain/113.4.903
DO - 10.1093/brain/113.4.903
M3 - Article
C2 - 2168781
AN - SCOPUS:0025088296
VL - 113
SP - 903
EP - 919
JO - Brain
JF - Brain
SN - 0006-8950
IS - 4
ER -