By Sarah Bundey and Alan E. H. Emery (Auth.)
Supplying assistance to scientific geneticists and neurologists in regards to the mode of inheritance and genetic counselling dangers for neurological stipulations, this article teams topics jointly lower than such headings because the muscular dystrophies, phakomatoses, peripheral neuropathies, and dementias. the writer accommodates the advances in molecular biology that experience happened some time past 7 years and the localization of genes for plenty of neurological issues. a brand new bankruptcy on mitochondrial ailments is incorporated, in addition to new sections at the Xp21 muscular dystrphies, the power spinal muscular atrophies, amyloid neuropathies, Rett's syndrome, torsion dystonia, trichothiodystrophy, early onset Cockayne syndrome and prion protein illnesses. New descriptions of surprising genetic mechanisms are supplied and 18 new illustrations and a map of the chromosomal destinations of a few neurological ailments are given
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8 Incidence of symptomatic intracranial t u m o u r s in patients with specific disorders Neurofibromatosis T u b e r o u s sclerosis Von-Hippel-Lindau disease Basal-cell Naevus syndrome 12-20% 5-7% 80-90% 5-10% (Koch 1972). Such tumours consist of immature, poorly differentiated cells and histologically they fall into the gliomatosis-glioblastomatosis group. They lie deep in the brain, particularly involving the fronto-temporal and parieto-occipital regions, and they may be multifocal. Patients may have discrete progressive lesions which present as brain tumours, or they may have a more diffuse glioblastomatosis which presents as mental retardation and/or epilepsy.
T h e epilepsy is difficult to control and the children progress to a state of decerebrate rigidity with dementia. Death occurs by 4 years of age and neuropathology reveals a sudanophilic leucodystrophy together with angiomatosis of the leptomeninges. T h e abnormal vessels extend into the cortex so the more appropriate description of them is meningocortical angiomatosis (Arseni et al 1973). Three families have been described with this lethal infantile disorder, in which siblings only were affected and inheritance is likely to be autosomal recessive (Hooft et al 1965; Bruens et al 1968; Arseni et al 1973).
T h e size of the skin lesion is not related to the extent of the meningeal lesion, which consists of a dense sheet of thin walled vessels particularly affecting the posterior parietal and occipital regions. Areas of calcification and degeneration develop in the cerebral cortex beneath, so that symptoms of epilepsy and mental impairment often develop during infancy and progress. However although these complications are well-known, a follow-up study of 35 cases seen at the Mayo Clinic between 1935-1956 (Peterman et al 1958) show that they are not too disabling.