Neurometabolic Hereditary Diseases of Adults
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This practical book describes only neurometabolic hereditary diseases which have a specific treatment and encourages the general neurologist to think of the most common neurometabolic hereditary diseases, which he might have seen and never considered in the differential diagnosis. Information regarding how to deal with diseases with special therapy is provided (i.e. enzymatic replacement therapy in Fabry disease and Pompe disease), as is information on diseases which are not easily recognized (i.e. Niemann-Pick disease type C), and diseases with clinical features mimicking other common neurodegenrative diseases (i.e. Wilson's disease). Neurometabolic Hereditary Diseases is written with a clinical focus for adult neurologists working in general hospitals. Front Matter ....Pages i-xiv Principles of Human Genetics and Mendelian Inheritance (Dominique P. Germain, Iulia E. Jurca-Simina)....Pages 1-28 Newborn Screening and High Risk Screening Population for Neurological Inherited Metabolic Diseases (Alberto Burlina, Giulia Polo)....Pages 29-41 Neuroimaging of Inherited Metabolic Diseases of Adulthood (Renzo Manara, Alessandro P. Burlina)....Pages 43-65 Fabry Disease (Alessandro P. Burlina, Juan Politei)....Pages 67-98 Pompe Disease (Alexander Peter Murphy, Volker Straub)....Pages 99-120 Niemann-Pick Disease Type C (Yann Nadjar, Marie T. Vanier)....Pages 121-146 Wilson’s Disease (France Woimant, Pascal Chaine, Aurélia Poujois)....Pages 147-168 Homocystinuria (Charles Marques Lourenço)....Pages 169-174 Back Matter ....Pages 175-181
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