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Article
February 1995

The Neuropathology of Williams Syndrome: Report of a 35-Year-Old Man With Presenile β/A4 Amyloid Plaques and Neurofibrillary Tangles

Author Affiliations

From the Pathology Service (Neuropathology) (Drs Golden and Nielsen) and the Neurology Service (Dr Hyman), Massachusetts General Hospital, and the Division of Genetics, Children's Hospital (Dr Pober), Harvard University Medical School, Boston, Mass; and the Department of Genetics, Yale University School of Medicine, New Haven, Conn (Dr Pober). Dr Golden is now with the Department of Pathology (Neuropathology), Brigham and Women's Hospital, Harvard Medical School, Boston, Mass.

Arch Neurol. 1995;52(2):209-212. doi:10.1001/archneur.1995.00540260115030
Abstract

Objective:  To study neuropathologically Williams syndrome in a 35-year-old patient.

Methods:  Sections from multiple regions of the brain were examined with luxol fast blue and hematoxylineosin staining, and selected sections were stained with the silver impregnation technique (Bielschowsky technique) and Congo red. In addition, immunohistochemistry with monoclonal antibodies against glial fibrillary acidic protein, β/A4 amyloid, paired helical filaments, and phosphorylated tau protein was performed on cortical, hippocampal, amygdaloid, and basal ganglian sections.

Results:  No specific macroscopic or microscopic abnormalities were recognized that are specific for Williams syndrome. The histopathologic examination did, however, demonstrate the presence of Alzheimer-type changes, including β/A4 amyloid—containing senile plaques and scattered neurofibrillary tangles in neocortex and medial temporal lobe structures (entorhinal cortex, CA1 area of the hippocampus, and amygdala). Plaques were most numerous in the amygdala (7/mm2) and in the entorhinal cortex (4/mm2). Neurofibrillary tangles were less numerous (<1/mm2), except in the hippocampus, where approximately 2/mm2 were found.

Conclusions:  To our knowledge, ours represents the first neuropathologic description of a patient with Williams syndrome. Although Williams syndrome is usually sporadic, familial cases have been reported along with candidate chromosomal loci. If our findings are confirmed in additional patients with Williams syndrome, they may provide clues to other factors that are important in the pathogenesis of senile plaques (with β/A4 amyloid deposition) and neurofibrillary tangles.

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