Movement Disorders and Inherited Metabolic Disorders

Recognition, Understanding, Improving Outcomes
Herausgeber: Ebrahimi-Fakhari, Darius; Pearl, Phillip L

• Broschiertes Buch

Produktbeschreibung

Bridges the expertise gap between genetic-metabolic medicine and movement disorder neurology to increase early recognition of inherited metabolic movement disorders.

Produktdetails

• Verlag: Cambridge University Press
• Seitenzahl: 440
• Erscheinungstermin: 29. Oktober 2020
• Englisch
• Abmessung: 251mm x 198mm x 25mm
• Gewicht: 1076g
• ISBN-13: 9781108556743
• ISBN-10: 1108556744
• Artikelnr.: 60199992

Inhaltsangabe

Section I. General Principles and a Phenomenology-Based Approach to
Movement Disorders and Inherited Metabolic Disorders: 1. Treatable
Metabolic Movement Disorders: the Top 10; 2. The Importance of Movement
Disorders in Inborn Errors of Metabolism; 3. The Importance of Inborn
Errors of Metabolism for Movement Disorders; 4. Imaging in Metabolic
Movement Disorders; 5. Biochemical Testing for Metabolic Movement
Disorders; 6. Genetic Testing for Metabolic Movement Disorders; 7. A
Phenomenology-Based approach to inborn errors of metabolism with Ataxia; 8.
A Phenomenology-Based Approach to Inborn Errors of Metabolism with
Dystonia; 9. A Phenomenology-Based Approach to Inborn Errors of Metabolism
with Parkinsonism; 10. A Phenomenology-Based Approach to Inborn Errors of
Metabolism with Spasticity; 11. A Phenomenology-Based Approach to Inborn
Errors of Metabolism with Myoclonus; Section II. A Metabolism-Based
Approach to Movement Disorders and Inherited Metabolic Disorders: 12.
Disorders of Amino Acid Metabolism: Amino Acid Disorders, Organic
Acidurias, and Urea Cycle Disorders with Movement Disorders; 13. Disorders
of Energy Metabolism: Glut1 Deficiency Syndrome and Movement Disorders; 14.
Lysosomal Storage Disorders: Niemann-Pick Disease Type C and Movement
Disorders; 15. Lysosomal Storage Disorders: Neuronal Ceroid Lipofuscinoses
and Movement Disorders; 16. Syndromes of Neurodegeneration with Brain Iron
Accumulation; 17. Metal Storage Disorders: Inherited Disorders of Copper
and Manganese Metabolism and Movement Disorders; 18. Metal Storage
Disorders: Primary Familial brain Calcification and Movement Disorders; 19.
Disorders of Glycosylation and Movement Disorders; 20. Disorders of
Post-translational Modifications / Degradation: Disorders of Autophagy and
Movement Disorders; 21. Neurotransmitter Disorders: Disorders of Dopamine
Metabolism and Movement Disorders; 22. Disorders of GABA Metabolism and
Movement Disorders; 23. DNAJC12-deficient Hyperphenylalaninemia - An
Emerging Neurotransmitter Disorder; 24. Vitamin-Responsive Disorders:
Ataxia with Vitamin E Deficiency and Movement Disorders; 25.
Vitamin-Responsive Disorders: Biotin-Thiamin Responsive Basal Ganglia
Disease and Movement Disorders; 26. Disorders of Cholesterol Metabolism:
Cerebrotendinous Xanthomatosis and Movement Disorders; 27. Purine
Metabolism Defects: the Movement Disorder of Lesch-Nyhan Disease; 28.
Disorders of Creatine Metabolism: Creatine Deficiency Syndromes and
Movement Disorders; 29. Hereditary Spastic Paraplegia Related Inborn Errors
of Metabolism; Section III. Conclusions and Future Directions: 30.
Metabolic Movement Disorders in the Era of Next-Generation Sequencing; 31.
Deep Brain Stimulation for Metabolic Movement Disorders; 32. Novel
Therapeutic Approaches to Metabolic Movement Disorders; Closing Remarks: A
Clinical approach to Inherited Metabolic Movement Disorders.