Table 1.

Documented neuropathology in previously published studies

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

¹Brain weights within normal limits unless otherwise noted.

²Light microscopy, standard histologic stains.

³Electron microscopy.

⁴Amyotrophic lateral sclerosis.

⁵Arteriovenous malformation

⁶Purkinje cell.

⁷Magnetic resonance imaging.