Movement Disorders and Inherited Metabolic Disorders: Recognition, Understanding, Improving Outcomes

EAN: 9781108556743
Published 01/10/2020
Language: English

Inherited metabolic movement disorders are a significant and rapidly evolving field of study, linking two subspecialty areas of childhood-onset movement disorders and inborn errors of metabolism. Increasing the chance of early recognition of inherited metabolic movement disorders can have significant therapeutic implications for patients. Containing information on new disorders of post-translational modification and autophagy and their identification and treatment, there is thorough coverage of disorders of amino acids, energy metabolism, and lysosomal storage, amongst others. This key resource explores future directions in the field including next-generation genetic sequencing and novel therapeutic approaches such as deep brain stimulation. Supplementary videos are available on Cambridge Core, accessible via the code printed inside the cover. This essential text bridges the gap in communication between experts in genetic-metabolic medicine and movement disorder neurology. With an emphasis on treatable conditions that should not be missed, this volume guides you through various disorders from a clinical, biochemical and genetic perspective.

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.