TY - JOUR
T1 - The spectrum of clinicopathological features in pure autonomic neuropathy
AU - Koike, Haruki
AU - Hashimoto, Rina
AU - Tomita, Minoru
AU - Kawagashira, Yuichi
AU - Iijima, Masahiro
AU - Koyano, Shigeru
AU - Momoo, Takayuki
AU - Yuasa, Hiroyuki
AU - Mitake, Shigehisa
AU - Higashihara, Mana
AU - Kaida, Kenichi
AU - Yamamoto, Daisuke
AU - Hisahara, Shin
AU - Shimohama, Shun
AU - Nakae, Yoshiharu
AU - Johkura, Ken
AU - Vernino, Steven
AU - Sobue, Gen
N1 - Funding Information:
This work was supported by grants from the Ministry of Health, Labor and Welfare of Japan, the Ministry of Education, Culture, Sports, Science and Technology of Japan, and the Kimi Imai Memorial Foundation for research of Incurable Neuromuscular Diseases.
PY - 2012/10
Y1 - 2012/10
N2 - We assessed the clinicopathological features of nine patients with pure autonomic neuropathy, that is, neuropathy without sensory or motor deficits. The duration from symptom onset to diagnosis ranged from 1 month to 13 years. Of eight patients in whom serum antiganglionic acetylcholine receptor antibody was determined, four were positive. All patients who tested positive for this antibody manifested widespread autonomic dysfunction, with the exception of one patient who only experienced orthostatic hypotension. However, patients who were negative for the antiganglionic acetylcholine receptor antibody presented with partial autonomic failure. One of these patients had diffuse parasympathetic failure and generalized hypohidrosis but no orthostatic hypotension, which is clinically compatible with postganglionic cholinergic dysautonomia. Electron microscopic examination revealed a variable degree of reduction in unmyelinated fibers. Compared with normal controls, the patients had a significantly increased density of collagen pockets (p<0.05). Additionally, the percentage of Schwann cell subunits with axons (out of the total number of Schwann cell subunits associated with unmyelinated fibers) was significantly decreased (p<0.01). The density of unmyelinated fibers tended to decrease with increasing time between the onset of autonomic symptoms and biopsy (p<0.05). In conclusion, the clinical and pathological features of pure autonomic neuropathy vary in terms of progression, autonomic involvement, presence of the antiganglionic acetylcholine receptor antibody, and loss of unmyelinated fibers.
AB - We assessed the clinicopathological features of nine patients with pure autonomic neuropathy, that is, neuropathy without sensory or motor deficits. The duration from symptom onset to diagnosis ranged from 1 month to 13 years. Of eight patients in whom serum antiganglionic acetylcholine receptor antibody was determined, four were positive. All patients who tested positive for this antibody manifested widespread autonomic dysfunction, with the exception of one patient who only experienced orthostatic hypotension. However, patients who were negative for the antiganglionic acetylcholine receptor antibody presented with partial autonomic failure. One of these patients had diffuse parasympathetic failure and generalized hypohidrosis but no orthostatic hypotension, which is clinically compatible with postganglionic cholinergic dysautonomia. Electron microscopic examination revealed a variable degree of reduction in unmyelinated fibers. Compared with normal controls, the patients had a significantly increased density of collagen pockets (p<0.05). Additionally, the percentage of Schwann cell subunits with axons (out of the total number of Schwann cell subunits associated with unmyelinated fibers) was significantly decreased (p<0.01). The density of unmyelinated fibers tended to decrease with increasing time between the onset of autonomic symptoms and biopsy (p<0.05). In conclusion, the clinical and pathological features of pure autonomic neuropathy vary in terms of progression, autonomic involvement, presence of the antiganglionic acetylcholine receptor antibody, and loss of unmyelinated fibers.
KW - Antiganglionic acetylcholine receptor antibody
KW - Autoimmune autonomic ganglionopathy
KW - Autonomic neuropathy
KW - Pure autonomic failure
KW - Unmyelinated fiber loss
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U2 - 10.1007/s00415-012-6458-x
DO - 10.1007/s00415-012-6458-x
M3 - Article
C2 - 22361978
AN - SCOPUS:84867332870
SN - 0340-5354
VL - 259
SP - 2067
EP - 2075
JO - Journal of neurology
JF - Journal of neurology
IS - 10
ER -