Table 1 Documented neuropathology in previously published studies

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