Clinical Heterogeneity in Patients with Glutamate Decarboxylase Antibody

Neuroimmunomodulation. 2019;26(5):234-238. doi: 10.1159/000502695. Epub 2019 Oct 29.

Abstract

Objective: To explore the diversity and clinical features of anti-glutamate decarboxylase (GAD) antibody-associated neurological diseases.

Methods: Clinical data of a series of 5 patients positive for anti-GAD antibodies were retrospectively analyzed.

Results: All 5 patients were female, with a median age of 41.5 years (range 19-60 years). Their neurological symptoms included stiff-person syndrome (SPS), encephalitis, myelitis, cramp, visual loss, and paresthesia. Three patients (60%) were diagnosed with tumors, 2 cases of thymic tumor and 1 of breast cancer. On immunohistochemistry for tumor pathology, expression of GAD65 was found only in 1 patient. Four patients (80%) had abnormal brain MRI findings. All patients received immunotherapy and improved significantly after treatment, but 4 (80%) then experienced a relapse.

Conclusions: Neurological manifestations in anti-GAD-positive patients are diverse and include SPS, encephalitis, myelitis, cramp, visual loss, and paresthesia.

Keywords: Antibody; Glutamate decarboxylase; Heterogeneity; Histopathology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Autoantibodies / immunology*
  • Autoimmune Diseases of the Nervous System / diagnostic imaging
  • Autoimmune Diseases of the Nervous System / immunology
  • Autoimmune Diseases of the Nervous System / physiopathology*
  • Brain / diagnostic imaging
  • Breast Neoplasms / metabolism
  • Encephalitis / diagnostic imaging
  • Encephalitis / immunology
  • Encephalitis / physiopathology
  • Female
  • Glutamate Decarboxylase / immunology*
  • Glutamate Decarboxylase / metabolism
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Muscle Cramp / immunology
  • Muscle Cramp / physiopathology
  • Myelitis / immunology
  • Myelitis / physiopathology
  • Paraneoplastic Syndromes, Nervous System / diagnostic imaging
  • Paraneoplastic Syndromes, Nervous System / immunology
  • Paraneoplastic Syndromes, Nervous System / physiopathology*
  • Paresthesia / immunology
  • Paresthesia / physiopathology
  • Recurrence
  • Retrospective Studies
  • Stiff-Person Syndrome / immunology
  • Stiff-Person Syndrome / physiopathology
  • Thymus Neoplasms / metabolism
  • Vision Disorders / immunology
  • Vision Disorders / physiopathology
  • Young Adult

Substances

  • Autoantibodies
  • Glutamate Decarboxylase
  • glutamate decarboxylase 2