Titlebook: Genetic Counseling for Adult Neurogenetic Disease; A Casebook for Clini Jill S. Goldman Book 2015 Springer Science+Business Media New York

內(nèi)閣

System of Organizing and Building DIISticipation, inability to predict age of onset, and lack of treatment options. This chapter will focus on the autosomal dominant spinocerebellar ataxias (SCAs), autosomal recessive Friedreich ataxia, and X-linked Fragile X tremor ataxia syndrome.

Brain-Waves

Substanzmissbrauch und Substanzabh?ngigkeit, the clinical overlap between dementias, distinction between autosomal dominant and risk genes, determining the capacity to consent to genetic testing, and the impact of predictive testing for a fatal, untreatable disease.

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PRE

Overview of Movement Disorders movement disorders is also complicated by having both Mendelian and multifactorial causes of disease. This section reviews the different types of movement disorders and the issues for genetic counseling.

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休閑

Dystonia dominant, autosomal recessive, or X-linked. Incomplete penetrance, imprinting, pleiotropic genes, and heterogeneous conditions are all seen. These genetic phenomena can present difficulties for genetic counseling. The most common genetic dystonias are presented in this chapter.

彩色

Ataxiaticipation, inability to predict age of onset, and lack of treatment options. This chapter will focus on the autosomal dominant spinocerebellar ataxias (SCAs), autosomal recessive Friedreich ataxia, and X-linked Fragile X tremor ataxia syndrome.

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