Case Studies in Movement Disorders

Drawing on the expertise of an international team of authors, Case Studies in Movement Disorders is a compilation of illustrative cases, demonstrating a step-by-step approach to diagnosing and managing these complex conditions. An extensive collection of over sixty videos shows both common and uncommon presentations of a wide range of movement disorders, and the accompanying text guides readers systematically through the clinical history, examination and investigation findings, and diagnosis, and finally discusses the clinical issues raised. Both surgical and pharmacological management options are presented, helping readers understand some of the controversies involved in treatment. The cases are drawn from all of the major groups of movement disorders: ataxia, chorea, dystonia, myoclonus, parkinsonism, tics, and tremor. This will be invaluable for both neurologists in training and more experienced professionals seeking to develop their diagnostic skills, especially when faced with uncommon conditions or uncommon manifestations of common disorders.

Draws on the experience of a global team of experts to cover a wide range of cases

Illustrative videos are on an accompanying website, helping readers to effectively visualize the presenting symptoms

The step by step approach to common and uncommon cases helps to build and reinforce diagnostic skills

Table of Contents:

List of contributors
List of abbreviations
Section 1. Parkinsonism:
1. Parkinson disease
2. Nonmotor Parkinson disease
3. Isolated lower limb dystonia at onset of Parkin disease
4. Parkinson's disease associated with SCNA mutations
5. Steele–Richardson–Olszewski syndrome
6. PSP-parkinsonism
7. Corticobasal degeneration
8. MSA – parkinsonian variant
9. Prominent freezing of gait and speech disturbances due to Fahr disease
10. A (familial) PSP look-alike
11. Parkinsonian syndrome and sunflower cataracts: Wilson's disease
12. Classic PD-like rest tremor in FTDP-17 due to a MAPT mutation
13. Progressive parkinsonism with falls and supranuclear gaze palsy
14. Very early onset parkinsonism
15. Parkinsonism due to CSF1R mutation
Section 2. Dystonia:
16. Early-onset generalized dystonia: DYT1
17. Early-onset jerky dystonia: an uncommon phenotype of DYT1
18. Early-onset generalized dystonia with cranio-cervical involvement: DYT6
19. Autosomal recessive isolated generalized dystonia: DYT2
20. Dopa-responsive dystonia
21. A complicated dopa-responsive dystonia: tyrosine hydroxylase deficiency
22. Early onset generalized dystonia and macrocephaly: Glutaric Aciduria type 1
23. PKAN misdiagnosed as 'progressive delayed-onset postanoxic dystonia'
24. Oromandibular dystonia and freezing of gait: a novel presentation of neuroferritinopathy
25. Generalized dystonia with oromandibular involvement and self-mutilations: Lesch-Nyhan syndrome
26. Dystonia complicated by pyramidal signs, parkinsonism and cognitive impairment: HSP11
27. H-ABC syndrome
28. Dystonic opisthotonus
29. Delayed-onset dystonia after lightning strike
Section 3. Tics:
30. Gilles de la Tourette syndrome
31. Secondary tic disorders: Huntington disease
32. Multiple hyperkinesias: tics and paroxysmal kinesigenic dyskinesia
33. Functional tic disorders
Section 4. Chorea:
34. Huntington disease
35. Generalized chorea with oromandibular involvement and tongue biting
36. A Huntington disease look-alike: SCA17
37. A newly recognized HD-phenocopy associated with C9orf72 expansion
38. Persistent chorea due to anticholinergics in DYT6
39. Dyskinesia without levodopa: long-term follow-up of mesencephalic transplant in PD
40. Benign hereditary chorea
41. Another cause of benign hereditary chorea
Section 5. Tremor:
42. Essential tremor
43. Rest tremor and scans without evidence of dopaminergic deficit (SWEDD)
44. Neuropathic tremor
45. A treatable disorder misdiagnosed as ET
46. Thalamic tremor
47. Shaking on standing: orthostatic tremor
48. Palatal tremor
49. Dystonic tremor and progressive ataxia
50. Bilateral Holmes tremor in multiple sclerosis
51. Primary writing tremor
Section 6. Myoclonus:
52. A case of 'essential' myoclonus
53. Ramsey Hunt syndrome and Unverricht–Lundborg disease
54. North Sea myoclonus due to GOSR2 mutations
55. Ramsay Hunt syndrome and coeliac disease
56. Asymmetric myoclonus and apraxia: corticobasal syndromep
57. Rapidly progressive cognitive regression and myoclonus
58. Familial cortical 'tremor'
59. Prominent myoclonus and parkinsonism
60. Axial myoclonus of uncertain origin
Section 7. Ataxia:
61. Slowly progressive unsteadiness and double vision
62. Cerebellar ataxia with urinary incontinence: MSA-C
63. Progressive ataxia, tremor, autonomic dysfunction and cognitive impairment
64. Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) syndrome
65. Ataxia telangiectasia without ataxia
66. Anti-Yo related ataxia misdiagnosed as multiple system atrophy
67. Late onset spinocerebellar ataxia
68. Ataxia with splenomegaly: Niemann–Pick disease type C.