FXTAS, FXPOI, and Other Premutation Disorders by Flora Tassone & Deborah A. Hall

Author:Flora Tassone & Deborah A. Hall
Language: eng
Format: epub
Publisher: Springer International Publishing, Cham

Pathology Phenotype

In 2002, Greco et al. (2002) reported the postmortem results on four men with FXTAS. Each of the four individuals showed intranuclear inclusions in neurons and astrocytes. From two of the brains, they found that the inclusions were located throughout the cerebrum and brain stem and were most numerous in the hippocampal formation. In the cerebellum, they found dropout of Purkinje cells, Purkinje axonal torpedoes, and Bergmann gliosis. They did not find inclusions in the Purkinje cells, but inclusions were found in a few neurons in the dentate nucleus and diffusely in cerebellar astrocytes.

This report was followed up in 2006 with an additional seven men. Based on 11 men who had FXTAS, Greco et al. (2006) identified the three most prominent neuropathological characteristics: (1) significant cerebral and cerebellar white matter disease, (2) associated astrocytic pathology with dramatically enlarged inclusion-bearing astrocytes prominent in cerebral white matter, and (3) the presence of intranuclear inclusions in both brain and spinal cord. For detailed description, see Chap. 5.

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