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.