By Roger E. Stevenson
The Atlas of X-Linked highbrow incapacity Syndromes is a entire and up to date precis of the clinically particular issues as a result of genes at the X chromosome. scientific and laboratory info on one hundred fifty syndromes are offered in a concise and constant demeanour. each one syndrome is outlined and data is supplied on somatic positive aspects, development and improvement, neurological symptoms, cognitive functionality, imaging and different laboratory findings, and while attainable, the character and localization of the in charge gene. Craniofacial and different somatic findings are broadly illustrated. A differential matrix accompanies every one syndrome description to help the reader in making a choice on different X-linked syndromes with overlapping positive factors. person syndrome entries are supplemented with nineteen appendices that determine syndromes with universal beneficial properties and supply the positioning or mapping limits and serve as of the accountable genes.
The authors have broad event within the scientific and laboratory delineation of X-linked highbrow incapacity. they've got defined new syndromes, locally mapped ailment loci at the X chromosome, and pointed out the genes answerable for X-linked syndromes.
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Additional info for Atlas of X-Linked Intellectual Disability Syndromes
Heterozygote Expression. One mother had two episodes in adult life with ataxia and confusion. Brain imaging showed cerebellar atrophy and enlargement of the fourth ventricle. Neuropathology. Post mortem examination has shown neuronal loss and gliosis in the brainstem and cerebellum. The dentate nucleus and inferior olive are invariably involved. Diff use gliosis was present in the cerebellum with loss of myelinated fibers in the white matter and loss of Purkinje and granule cells in the cortex.
Seizures – tonic-clonic or complex types – further complicate the childhood course. Neurological Findings. A relentless neuromuscular deterioration leads to death in early childhood (ages newborn to 5 years). Neurological findings appear to accentuate following childhood infection. Generalized muscle underdevelopment is reflected in hypotonia and weakness. Reflexes are absent. Truncal and limb ataxia are present from infancy. Deafness, loss of vision, and seizures are further manifestations of the deterioration.
Magnetic resonance image showing prominent cerebellar folia and enlarged fourth ventricle. Courtesy of Dr. Morris Levinsohn, Beachwood, Ohio. Comment. Although the recurrence of vomiting, lethargy, and incoordination suggests a metabolic disturbance, none has been found. A similar course – but without deafness and recurrent episodes of vomiting, lethargy, and incoordination – has been reported by Malamud and Cohen (1958). REFERENCES Malamud N, Cohen P: Unusual form of cerebellar ataxia with X-linked inheritance.