Cerebellar ataxia and autoantibodies restricted to glutamic acid decarboxylase 67 (GAD67).
Cerebellar ataxia is one of the most frequent syndromes associated with autoantibodies against glutamic acid decarboxylase (GAD-ab). Antibodies recognize the isoform GAD65, which is the standard biomarker, but additional immunoreactivity against GAD67 is found in high proportion of patients with GAD-ab-associated neurological disorders. We describe the case of a 59-year-old woman who presented with pancerebellar syndrome of subacute onset (9weeks to nadir). In the etiological study, high titers of GAD-ab were found, but these only recognized the GAD67 isoform and not the GAD65. Screening of GAD67-ab should be considered in late-onset cerebellar ataxia when GAD65-ab are absent.
Service of Neurology, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.
Mar
M
Guasp
Service of Neurology, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.
Nuria
N
Solà-Valls
Service of Neurology, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain; Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.
Eugenia
E
Martínez-Hernández
Service of Neurology, Hospital Arnau de Vilanova, Lleida, Spain.
M Pilar
MP
Gil
Service of Neurology, Hospital Arnau de Vilanova, Lleida, Spain.
Cristina
C
González
Service of Neurology, Hospital Arnau de Vilanova, Lleida, Spain.
Luis
L
Brieva
Service of Neurology, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain; Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Albert
A
Saiz
Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain; Neurology, University of Pennsylvania, United States.
Josep
J
Dalmau
Service of Neurology, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain; Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Francesc
F
Graus
Service of Neurology, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain. Electronic address: harino@clinic.ub.es.
Helena
H
Ariño
D001323:Autoantibodies / Q000097:blood*; D015415:Biomarkers / Q000097:blood; D002524:Cerebellar Ataxia / Q000097:blood* / Q000000981:diagnostic imaging*; D005260:Female; D005968:Glutamate Decarboxylase / Q000097:blood*; D006801:Humans; D008875:Middle Aged
D001323:Autoantibodies; D015415:Biomarkers; D005968:Glutamate Decarboxylase; C402565:glutamate decarboxylase 1