TY - JOUR
T1 - Paraneoplastic cerebellar ataxia associated with anti-hu antibodies and benign ganglioneuroma
AU - Fancellu, Roberto
AU - Corsini, Elena
AU - Bernardi, Gaetano
AU - Buzzo, Paolo
AU - Ferrari, Maria Luisa
AU - Lamantea, Eleonora
AU - Garaventa, Alberto
AU - Truini, Mauro
AU - Salvarani, Sandro
PY - 2014/10/1
Y1 - 2014/10/1
N2 - We describe a case of cerebellar ataxia associated with anti-Hu antibodies and benign ganglioneuroma. A 28-year-old woman developed progressive ataxia with hyporeflexia at the age of 19. Brain MRI showed progressive cerebellar atrophy. Neurophysiological studies, screening of immune-mediated ataxias, oncological markers, vitamin E and genetic tests for spinocerebellar ataxia types 1,2,3, Friedreich ataxia and POLG1 were negative. Anti-Hu antibodies were positive in Western blot and indirect immunofluores- cence (1:640). Total-body computed tomography revealed a mediastinum mass; the histological diag- nosis was maturing ganglioneuroma. Immunohisto- chemistry showed a mild reaction between the tumor and the patient’s serum, and no reaction between the tumor and control serum. After surgery, serum anti-Hu titer decreased, while ataxic symptoms initial- ly worsened and then stabilized. Ganglioneuroma is a benign tumor, usually derived from the maturation of a neuroblastoma. The benign histology and the pres- ence of anti-Hu antibodies could be related to the positive oncological prognosis and to the slow clini- cal course mimicking a degenerative ataxia.
AB - We describe a case of cerebellar ataxia associated with anti-Hu antibodies and benign ganglioneuroma. A 28-year-old woman developed progressive ataxia with hyporeflexia at the age of 19. Brain MRI showed progressive cerebellar atrophy. Neurophysiological studies, screening of immune-mediated ataxias, oncological markers, vitamin E and genetic tests for spinocerebellar ataxia types 1,2,3, Friedreich ataxia and POLG1 were negative. Anti-Hu antibodies were positive in Western blot and indirect immunofluores- cence (1:640). Total-body computed tomography revealed a mediastinum mass; the histological diag- nosis was maturing ganglioneuroma. Immunohisto- chemistry showed a mild reaction between the tumor and the patient’s serum, and no reaction between the tumor and control serum. After surgery, serum anti-Hu titer decreased, while ataxic symptoms initial- ly worsened and then stabilized. Ganglioneuroma is a benign tumor, usually derived from the maturation of a neuroblastoma. The benign histology and the pres- ence of anti-Hu antibodies could be related to the positive oncological prognosis and to the slow clini- cal course mimicking a degenerative ataxia.
KW - Anti-Hu antibodies
KW - Ganglioneuroma
KW - Immune-medi- ated ataxia
KW - Neuroblastoma
KW - Paraneoplastic syndrome
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M3 - Article
C2 - 25764259
AN - SCOPUS:84924858411
VL - 29
SP - 277
EP - 280
JO - Functional Neurology
JF - Functional Neurology
SN - 0393-5264
IS - 4
ER -