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R D Rudelli

Publications and source records attributed to R D Rudelli.

23 records · Page 2Linked to original sources
PubMedDate not supplied

Fragile X syndrome: neuropathology center.

There is an acute need for additional neuropathological information in the fra(X) or Martin-Bell syndrome. We propose a centralized fra(X) neuropathological research center to promote research and understanding of the underlying neuropathologic changes. Brain specimens can be sent to our center for neuropathological analysis. Reports will be sent to the contributing health professionals. Clinicians and relatives are encouraged to request autopsies and to contact the Center regarding brain donations for purposes of research and understanding.

Academies and Institutes↗
PubMedDate not supplied

The Fra(X) syndrome: neurological, electrophysiological, and neuropathological abnormalities.

We have evaluated 62 fragile X syndrome [fra(X)] individuals (55 males and 7 females) with different degrees of developmental disabilities that were clinically non-progressive and non-focal in character. The mean age for the 55 males was 23.1 years +/- 14.3 SD with a range of 2-70: for the 7 females, the mean age was 15.7 years +/- 3.5 SD with a range of 10-20 years. Mental retardation (MR) was found in 53 males (8/53 [15.1%] mild, 26/53 [49.1%] moderate, 14/53 [26.4%] severe, and 5/53 [9.4%] profound). Learning disabilities were found in 2/55 (3.6%) of males. One of the 7 females had mild and one had moderate MR: the other 5 were learning disabled. Autistic stigmata were present in 10/62 (16%) of the patients. Only 14/62 (23%) had a history of seizures, all of which were controlled with anticonvulsants. In 36/62 cases, an electroencephalogram (EEG) was performed. We compared these data with that of others. Brain stem auditory evoked response (BAER) was performed in 12 cases. Abnormalities were found in only 5/12. Neuroimaging and computerized cranial transaxial tomography (CT scan) were performed on 21/62 (34%) of the patients. Only 8 of these 21 (38%) studies were abnormal. One patient died; neuropathological studies showed mild brain atrophy, with light microscopic and ultrastructural abnormalities. Rapid Golgi dendritic spine patterns showed that the proximal apical segments were abnormally developed. Very thin, long tortuous spines with prominent terminal heads and irregular dilatations were present. Marked reductions in the length of the synapses, as determined on EPTA-postfixed tissue where noted.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMedDate not supplied

Brain morphology in the Galloway syndrome.

The Galloway syndrome is a rare autosomal recessive disease consisting of congenital microencephaly associated with congenital nephrotic syndrome, and in some cases with hiatus hernia [Galloway and Mowatt, 1968]. The case presented is that of a microencephalic infant with the nephrotic syndrome who died at 11 3/4 months after a course characterized by convulsions, developmental delay, hypotonia and hyperreflexia. Brain weight was 270 g. The frontal, parietal, and rostral temporal cortex was pachygyric. Microscopically there was lack of cortical stratification, immature cortical neurons, improper orientation of cortical neurons (seen in the Golgi stained sections), and glioneuronal ectopias in the leptomeninges. There was hypomyelination in the brain stem and spinal cord, and no myelin in the hemispheres. There was also complete absence of the internal granular layer of the cerebellum. The dentate gyrus within the hippocampal formation was absent and the inferior olivary nuclei were hypoplastic. The mechanism of neuronal migration abnormalities and the significance of associated nephrosis is discussed.

Brain↗