Hereditary neuropathies and spinocerebellar atrophies
Author(s)
Bibliographic Information
Hereditary neuropathies and spinocerebellar atrophies
（Handbook of clinical neurology, revised series 16 = v. 60）
Elsevier, c1991
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Note
Includes bibliographical references and index
Description and Table of Contents
Description
The reader of this volume will be struck by three marked differences with Vol. 21 of the original HCN series. The first - awareness of the tremendous data-increment on adult-onset autosomal-dominant OPCA over the recent years led the editors to opt for a less-rigidly conceptualized and more realistic presentation of that topic, this presentation having two obvious merits: it stays close to clinical reality, and it leaves the field wide open for the ordering principle of molecular genetics to draw the definitive lines of the frame. The second conspicuous difference is the neuropathy-classification chapter based on the work of the WFN Research Group, and an exhaustive ataxia differential diagnosis chapter. The third and final difference to be noted on almost every page of this volume, is the revolutionary impact molecular genetics has exerted (and is continuing to exert) on aneurological, once rather academic and abstruse domain largely devoid oftherapeutic consequences. The very latest information on these developments is provided.
Table of Contents
HEREDITARY NEUROPATHIES
1. The World Federation of Neurology Classification of hereditary and congenital neuropathies (J.M.B.V. de Jong). 2. Hereditary sensory neuropathy (R.A. Ouvrier and J.G. McLeod). 3. Familial dysautonomia (G.B. Solitare). 4. Hereditary cranial nerve palsy (G.W. Bruyn). 5. Progressive external ophthalmoplegia (D.A. Chad and D.A. Drachman). 6. Hereditary neuropathy with liability to pressure palsies (P.J.M. van Wensen). 7. Heredofamilial plexus brachialis neuropathy (P.J.M. van Wensen). 8. Giant axonal neuropathy (J. Lycklama a Nijeholt). 9. Familial amyloid polyneuropathies (H. Staunton). 10. Neuropathy of porphyria (M. Greer). 11. Metachromatic leukodystrophy (J.A.F.M. Luijten). 12. Neuropathy in Bassen-Kornzweig disease and Tangier disease (G.W. Bruyn). 13. The neuropathy of familial amyotrophic chorea with acanthocytosis () (E.P. Bharucha). 14. Niemann-Pick disease types A, C and D, Gaucher disease types I, II and III, and Wolman disease (S.C. Patel, N.W. Barton and C. Argoff). 15. Rare neurolipidotic polyneuropathies (G.W. Bruyn). 16. Hereditary motor and sensory neuropathy types I and II () (J.E. Hoogendijk and M. de Visser). 17. Dejerine-Sottas' hypertrophic neuropathy () and Roussy-Levy syndrome (W. Schady and R.G. Lascelles). 18. Heredopathia atactica polyneuritiformis. Phytanic acid storage disease () () (O.H. Skjeldal, O. Stokke and S. Refsum). 19. Hereditary motor and sensory neuropathies - rare variants (J.E. Hoogendijk and J.M.B.V. de Jong). 20. Clinical work-up of the patient with a polyneuropathy (N.C. Notermans, J.H.J. Wokke and F.G.I. Jennekens).
SPINOCEREBELLAR ATROPHIES
21. The classification of familial ataxias (S.H. Subramony and R.D. Currier). 22. Hereditary congenital cerebellar atrophy (G.W. Bruyn). 23. Friedreich's disease (B.V. Manyam). 24. Neurological aspects of xeroderma pigmentosum () (E. Byrne). 25. Cerebellolental degeneration () (M. Cook and E. Byrne). 26. Ataxia-telangiectasia (R.P. Segdwick and E. Boder). 27. Molecular genetics of ataxia-telangiectasia (R.A. Gatti). 28. Hereditary periodic ataxias (S.L. Moon and W.C. Koller). 29. Hereditary posterior column ataxia (J.M.B.V. de Jong). 30. Recessive spastic ataxia of Charlevoix-Saguenay (J.-P. Bouchard). 31. Hereditary spastic ataxia (M.J. Eadie). 32. Joseph disease: an autosomal dominant motor system degeneration (R.N Rosenberg). 33. Schut family ataxia (L.J. Schut). 34. Autosomal dominant cerebellar ataxia with slow saccades and peripheral neuropathy - a variety of olivopontocerebellar degeneration () (N.H. Wadia). 35. Olivo - ponto - cerebellar atrophy and retinal degeneration (P.T.V.M. de Jong and V.P.T. Hoppenreijs). 36. Olivopontocerebellar atrophy () (M.J. Eadie). 37. Non-familial olivopontocerebellar atrophy (A. Staal and J.M.B.V. de Jong). 38. Striatonigral degeneration: entity or non-entity? (G.W. Bruyn and J.M.B.V. de Jong). 39. Olivopontocerebellar atrophy with glutamate dehydrogenase deficiency (A. Plaitakis). 40. Cerebello-olivary atrophy (M.J. Eadie). 41. Ataxia with hypogonadism () (D.A. Howell). 42. Late hereditary and acquired cerebellar atrophy (E.L. Mancall). 43. Dyssynergia cerebellaris myoclonica (G.J. Gilbert). 44. Dentato-rubro-pallido-luysian atrophy (R. Iizuka and K. Hirayama). 45. Gerstmann-Straussler-Scheinker disease (M.R. Farlow, F. Tagliavini, O. Bugiani and B. Ghetti). 46. X-linked recessive ataxia (G.W. Bruyn and J.M.B.V. de Jong). 47. Differential diagnosis and work-up of the patient with hereditary spinocerebellar ataxia (J.M.B.V. de Jong and P.A. Bolhuis). 48. Thalamic degenerations (J.-J. Martin). 49. Retinitis pigmentosa associated with neurological disease (P.T.V.M. de Jong, G.W. Bruyn and J.M.B.V. de Jong). 50. Systemic optico-cochleo-dentate degeneration (P. Cras and J.J. Martin). 51. Hereditary progressive cochleovestibular atrophy (B.A. Yaqub, S.M. Zakzouk, S.M. Al-Deeb and M.U. Kabiraj).
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