Literature DB >> 6319613

Autosomal dominant late onset cerebellar ataxia with myoclonus, peripheral neuropathy and sensorineural deafness: a clinicopathological report.

M Baraitser, W Gooddy, A M Halliday, A E Harding, P Rudge, F Scaravilli.   

Abstract

Three members of a family were affected by an autosomal dominant disorder comprising cerebellar ataxia, sensorineural deafness, myoclonus, and peripheral neuropathy. This is the second kindred with this syndrome reported to date. Necropsy of the proband showed loss of cells in the dentate nuclei, a reduced amount of cerebellar white matter, and pallor of the gracile tracts in the spinal cord.

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Year:  1984        PMID: 6319613      PMCID: PMC1027636          DOI: 10.1136/jnnp.47.1.21

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  11 in total

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Authors:  H JACOBS
Journal:  J Neurol Neurosurg Psychiatry       Date:  1965-06       Impact factor: 10.154

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Authors:  J CHRISTOPHE; J GRUNER
Journal:  Rev Neurol (Paris)       Date:  1956-10       Impact factor: 2.607

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Authors:  M Koskiniemi; M Donner; H Majuri; M Haltia; R Norio
Journal:  Acta Neurol Scand       Date:  1974       Impact factor: 3.209

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Journal:  Arch Neurol       Date:  1968-09

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Authors:  J Roger; R Soulayrol; J Hassoun
Journal:  Rev Neurol (Paris)       Date:  1968-07       Impact factor: 2.607

6.  [Myoclonic cerebellar dyssynergy (R. Hunt): autonomic disease or variation of the progressive degenerative epilepsy-myoclonus (Unverricht-Lundberg). Anatomo-clinical approach].

Authors:  T De Barsy; G Myle; C Troch; R Matthys; J J Martin
Journal:  J Neurol Sci       Date:  1969 Jan-Feb       Impact factor: 3.181

7.  Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome.

Authors:  T D Bird; C M Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-02       Impact factor: 10.154

8.  [Familial olivo-ponto-cerebellar atrophy with myoclonus. Limits of cerebellar myoclonic dyssynergia (Ramsay-Hunt syndrome)].

Authors:  M Bonduelle; R Escourolle; P Bouygues; G Lormeau; F Gray
Journal:  Rev Neurol (Paris)       Date:  1976-02       Impact factor: 2.607

9.  The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

Authors:  A E Harding
Journal:  Brain       Date:  1982-03       Impact factor: 13.501

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Authors:  P Choteau; F Gray; P Warot; J F Dereux
Journal:  Rev Neurol (Paris)       Date:  1980       Impact factor: 2.607

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  3 in total

Review 1.  The inner ear and the neurologist.

Authors:  Charlotte Agrup; Michael Gleeson; Peter Rudge
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-02       Impact factor: 10.154

2.  Abnormal muscle and skin mitochondria in family with myoclonus, ataxia, and deafness (May and White syndrome).

Authors:  J Vaamonde; J Muruzabal; T Tuñón; N Perez; J Artieda; M Rodriguez; J A Obeso
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-02       Impact factor: 10.154

3.  Reflex myoclonus in olivopontocerebellar atrophy.

Authors:  M E Rodriguez; J Artieda; J L Zubieta; J A Obeso
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-03       Impact factor: 10.154

  3 in total

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