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Query: UMLS:C0013080 (Down syndrome)
 14,180 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The neuronal organization of the motor cortex of a 19-month old child with Down's syndrome (mongolism) has been studied with the rapid Golgi method. This congenital syndrome, also known as 21 Trisomy is caused by a chromosomal abnormality consisting of the presence of an extra chromosome in the group 21. Various structural abnormalities have been found in the dendritic spines (postsynaptic structures) of the pyramidal neurons of the motor cortex of this child. The axo-spinous synapses of these neurons are considered to be altered by these spine abnormalities. In addition, a peculiar form of intrinsic vacuolar change affecting the dendrites and scattered neuronal fragmentation and necrosis have also been found. At least three different types of abnormality involving the spines--(the unusually long spine, the very short spine and a reduction in the number of spines)--are recognized among the pyramidal cells of the motor cortex. It is postulated herein: that a basic anomaly, possibly related to the genetic disorder affects primarily some cortical neurons which undergo progressive degenerative changes terminating in cell fragmentation and death. The different spine abnormalities are considered to represent various developmental stages of the common genetic anomaly. These changes might be structural correlates of the motor incoordination and mental retardation which are characteristic of this genetic disorder, but, final conclusions should await the investigation of other cases with this or similar methods capable of demonstrating the normal as well as the abnormal structural organization of the human cerebral cortex.
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PMID:Pyramidal cell abnormalities in the motor cortex of a child with Down's syndrome. A Golgi study. 13 10

We report two brothers with previously unexplained mental retardation and seizures who had dysmorphic facial features, macro-orchidism, and a fragile site at the X chromosome. This recently described syndrome is the second most common chromosome aberration associated with mental retardation after Down's syndrome. In order to determine the prevalence of seizures and the frequency of specific neurological features, we studied a total of 17 patients with the fragile X syndrome. 41% had grand mal seizures; 41% had extensor plantar responses; 47% had hyperactive behaviour and 65% exhibited stereotypics; 59% had incoordination and 35% had blepharospasm. We emphasise the need for chromosome analysis of patients with unexplained mental retardation, specific phenotypic abnormalities, and large testes.
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PMID:Neurological findings in patients with the fragile-X syndrome. 392 Mar 55