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Table 1 Documented neuropathology in previously published studies

From: Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome

Author Patient Tissues Brain region analyzed Method of analysis Microscopical neuropathology
Dunn et al, 1963 [12] 18-year-old man, later diagnosed with fragile X syndrome Brain: 1040 g,1 normal cortical pattern, mild ventricular dilatation Multiple regions LM2 Inc neurons in subcortical white matter; reduced myelin in cerebral white matter; siderosis of globus pallidus, inferior olivary heterotopia,
Rudelli et al, 1983 [59] 23-, 24-week fetuses Brains(2) showing normal cortical development; testes   Gross examination only None noted
Rudelli et al, 1985 [60] 62-year-old male Brain: mild cortical atrophy Parieto-occipital neocortex LM, Golgi, EM3 Increased long, thin, immature spines; decreased synaptic length by EM
Desai et al, 1990 [13] 33-year-old male with ALS4 Brain (1850 g) with ALS pathology; testes Whole brain LM Heterotopia of olivary nucleus; Subcortical white matter neuronal clusters
Hinton et al, 1991 [61] 15-, 41-, 62-year-old male patients (62-year-old in Rudelli, 1985 [60]) Brains (3):normal Parieto-occipital neocortex Golgi Increased long, thin spines
    Cingulate, temporal association cortex Morphometric analysis No significant differences in neuronal counts
Wisniewski, 1991 [62] 63-year-old man Brain: mild atrophy, hydrocephalus, AVM5 of left temporal lobe Unspecified neocortex Golgi Increased long, thin spines
Sabaratnam, 2000 [63] 67-, 87-year-old men 67-year old (1778 g). 87-year-old: brain enlarged, ventricular dilatation 87-year-old: hippocampus, cerebellum LM CA4 cell loss, gliosis; PC6 dropout, Bergmann gliosis
Irwin et al, 2001[64] 48-, 48-, 73-year-old men Brain Temporal and visual neocortex Golgi Increased long, thin spines; increase in spine density
Moro et al, 2006 [11] 4.5-year-old and 13-year-old boys Live patients   MRI7 Periventricular heterotopias in both cases
  1. 1Brain weights within normal limits unless otherwise noted.
  2. 2Light microscopy, standard histologic stains.
  3. 3Electron microscopy.
  4. 4Amyotrophic lateral sclerosis.
  5. 5Arteriovenous malformation
  6. 6Purkinje cell.
  7. 7Magnetic resonance imaging.