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  • Title: Neurologic consequences of autoimmune polyglandular syndrome type 1.
    Author: Berger JR, Weaver A, Greenlee J.
    Journal: Neurology; 2008 Jun 03; 70(23):2248-51. PubMed ID: 18519874.
    Abstract:
    BACKGROUND: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive disorder that is chiefly characterized by polyendocrinopathy, chronic mucocutaneous candidiasis, and ectodermal dystrophy. The neurologic complications of this disorder have not been well characterized. METHOD: The authors report a patient with a previously undescribed autoimmune cerebellar degeneration occurring in association with APS-1 and review the literature regarding the neurologic complications of this disorder. RESULTS: This 24-year-old woman with APS-1 presented with gait ataxia associated with band-like hyperintense signal abnormalities of both cerebellar hemispheres and a unique antibody to cerebellar Purkinje cells and brainstem neurons. At age 9, she had C. Miller Fisher syndrome, from which she had fully recovered. CONCLUSIONS: Autoimmune neurologic disease may develop with autoimmune polyglandular syndrome type 1. Neurologic disease may also result from the associated endocrinopathies (hypoparathyroidism, hypothyroidism, diabetes mellitus), vitamin deficiency (vitamins B12 and E), and celiac sprue.
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