Autoantibodies to a 128-kd synaptic protein in three women with the stiff-man syndrome and breast cancer

Franco Folli, Michele Solimena, Roxanne Cofiell, Mario Austoni, Giovanni Tallini, Giuliano Fassetta, David Bates, Niall Cartlidge, Gian Franco Bottazzo, Giovanni Piccolo, Pietro De Camilli

Research output: Contribution to journalArticle

247 Citations (Scopus)

Abstract

Background. The stiff-man syndrome is a rare disease of the central nervous system characterized by progressive rigidity of the body musculature. Autoantibodies directed against glutamic acid decarboxylase are present in about 60 percent of patients with the syndrome. In this group, there is a striking association of the stiff-man syndrome with organ-specific autoimmune diseases, primarily insulin-dependent diabetes mellitus. Methods. We studied three women with the stiff-man syndrome and breast cancer, seeking autoantibodies directed against nervous system antigens in serum and cerebrospinal fluid by immunocytochemical techniques, Western blotting, and immunoprecipitation. Results. Autoantibodies directed against a 128-kd brain protein were found in two of the women with the stiff-man syndrome and breast cancer. These results led to a search for breast cancer in the third patient with the stiff-man syndrome, who also had autoantibodies. A small invasive ductal carcinoma was detected by ultrasonography and removed. Serum samples from all three patients were negative for autoantibodies directed against glutamic acid decarboxylase. Autoantibodies against the 128-kd antigen were not detected in control patients with the stiff-man syndrome without breast cancer or in patients with cancer who did not have the syndrome. Within the nervous system, the 128-kd autoantigen was localized in neurons and concentrated at synapses. Conclusions. In a subgroup of patients with the stiff-man syndrome, the condition is likely to have an autoimmune paraneoplastic origin. The detection of autoantibodies against the 128-kd antigen in patients with this syndrome should be considered an indication to search for an occult breast cancer.

Original languageEnglish (US)
Pages (from-to)546-551
Number of pages6
JournalNew England Journal of Medicine
Volume328
Issue number8
StatePublished - Feb 25 1993
Externally publishedYes

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Stiff-Person Syndrome
Autoantibodies
Breast Neoplasms
Proteins
Glutamate Decarboxylase
Antigens
Nervous System
Ductal Carcinoma
Autoantigens
Rare Diseases
Serum
Type 1 Diabetes Mellitus
Immunoprecipitation
Synapses
Autoimmune Diseases
Cerebrospinal Fluid
Ultrasonography
Central Nervous System
Western Blotting
Neurons

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Folli, F., Solimena, M., Cofiell, R., Austoni, M., Tallini, G., Fassetta, G., ... De Camilli, P. (1993). Autoantibodies to a 128-kd synaptic protein in three women with the stiff-man syndrome and breast cancer. New England Journal of Medicine, 328(8), 546-551.

Autoantibodies to a 128-kd synaptic protein in three women with the stiff-man syndrome and breast cancer. / Folli, Franco; Solimena, Michele; Cofiell, Roxanne; Austoni, Mario; Tallini, Giovanni; Fassetta, Giuliano; Bates, David; Cartlidge, Niall; Bottazzo, Gian Franco; Piccolo, Giovanni; De Camilli, Pietro.

In: New England Journal of Medicine, Vol. 328, No. 8, 25.02.1993, p. 546-551.

Research output: Contribution to journalArticle

Folli, F, Solimena, M, Cofiell, R, Austoni, M, Tallini, G, Fassetta, G, Bates, D, Cartlidge, N, Bottazzo, GF, Piccolo, G & De Camilli, P 1993, 'Autoantibodies to a 128-kd synaptic protein in three women with the stiff-man syndrome and breast cancer', New England Journal of Medicine, vol. 328, no. 8, pp. 546-551.
Folli F, Solimena M, Cofiell R, Austoni M, Tallini G, Fassetta G et al. Autoantibodies to a 128-kd synaptic protein in three women with the stiff-man syndrome and breast cancer. New England Journal of Medicine. 1993 Feb 25;328(8):546-551.
Folli, Franco ; Solimena, Michele ; Cofiell, Roxanne ; Austoni, Mario ; Tallini, Giovanni ; Fassetta, Giuliano ; Bates, David ; Cartlidge, Niall ; Bottazzo, Gian Franco ; Piccolo, Giovanni ; De Camilli, Pietro. / Autoantibodies to a 128-kd synaptic protein in three women with the stiff-man syndrome and breast cancer. In: New England Journal of Medicine. 1993 ; Vol. 328, No. 8. pp. 546-551.
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AU - Austoni, Mario

AU - Tallini, Giovanni

AU - Fassetta, Giuliano

AU - Bates, David

AU - Cartlidge, Niall

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AU - Piccolo, Giovanni

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N2 - Background. The stiff-man syndrome is a rare disease of the central nervous system characterized by progressive rigidity of the body musculature. Autoantibodies directed against glutamic acid decarboxylase are present in about 60 percent of patients with the syndrome. In this group, there is a striking association of the stiff-man syndrome with organ-specific autoimmune diseases, primarily insulin-dependent diabetes mellitus. Methods. We studied three women with the stiff-man syndrome and breast cancer, seeking autoantibodies directed against nervous system antigens in serum and cerebrospinal fluid by immunocytochemical techniques, Western blotting, and immunoprecipitation. Results. Autoantibodies directed against a 128-kd brain protein were found in two of the women with the stiff-man syndrome and breast cancer. These results led to a search for breast cancer in the third patient with the stiff-man syndrome, who also had autoantibodies. A small invasive ductal carcinoma was detected by ultrasonography and removed. Serum samples from all three patients were negative for autoantibodies directed against glutamic acid decarboxylase. Autoantibodies against the 128-kd antigen were not detected in control patients with the stiff-man syndrome without breast cancer or in patients with cancer who did not have the syndrome. Within the nervous system, the 128-kd autoantigen was localized in neurons and concentrated at synapses. Conclusions. In a subgroup of patients with the stiff-man syndrome, the condition is likely to have an autoimmune paraneoplastic origin. The detection of autoantibodies against the 128-kd antigen in patients with this syndrome should be considered an indication to search for an occult breast cancer.

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