Genetics and Neurology by Sarah Bundey and Alan E. H. Emery (Auth.)

By Sarah Bundey and Alan E. H. Emery (Auth.)

Supplying information to medical geneticists and neurologists in regards to the mode of inheritance and genetic counselling dangers for neurological stipulations, this article teams topics jointly less 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 lots of neurological problems. 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 ailments. 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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Further discussion on the question of half-chromatid mutation in incontinentia pigmenti is to be found in Hecht et al (1982) and Langenbeck (1982). Genetic counselling When giving genetic advice to the parents of an affected child, it is important to ask the mother about any skin lesions she may have had in infancy and to examine her carefully for remaining stigmata of the disease. Her pigmentation may have vanished but depigmented scarring should be searched for as well as the other signs of dental anomalies (absent or conically shaped teeth; Gorlin & Anderson 1960); partial alopecia especially of the vertex; dystrophy of the nails and an abnormality of sweating.

Neuroradiological studies often reveal assymetry 42 GENETICS AND NEUROLOGY between the two hemispheres and hydrocephalus. Brain histology may show enlargement of gyri and ccortical cellular disorganisation with abnormal stratification, abnormal positioning of pyramidal cells, and abnormally long and large glial cells (Zaremba et al 1978). N o occurrence in sibs has been reported and this is likely to be a nongenetic condition. E N C E P H A L O F A C I A L A N G I O M A T O S I S (STURGE-WEBER SYNDROME) T h e salient features of this condition are a cutaneous angiomatosis (naevus flammeus or port-wine naevus) associated with leptomeningeal angiomatosis on the same side.

American Journal of Diseases of Children 131: 167-169 Shapira Y, Cohen Τ 1973 Agenesis of the corpus callosum in two sisters. Journal of Medical Genetics 10: 2 6 6 - 2 6 9 Ziegler Ε 1958 Bôsartige, familliàre, fruhinfantile Krampfkrankheit, teilweise v e r b u n d e n mit familiàrer Balkenaplasie. Helvetica Paediatrica Acta 13: 1 6 9 - 1 8 4 Malformations of posterior fosssa A d a m s C, Johnston W P , Nevin Ν C 1982 Family study of congenital hydrocephalus. Developmental Medicine and Child Neurology 24: 4 9 3 - 4 9 8 Benda C Ε 1954 T h e D a n d y - W a l k e r syndrome or the so-called atresia of the foramen Magendie.

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