Literature DB >> 7492170

Dopa responsive dystonia.

K Patel1, T Roskrow, J S Davis, J Z Heckmatt.   

Abstract

There may be insufficient awareness of dopa responsive dystonia (DRD), which has a characteristic diurnal variation of symptoms. Two children are reported in whom the diagnosis of DRD was missed. The first was thought to have hysteria and the second hereditary spastic paraparesis. A full history is vital for the diagnosis of this important treatable syndrome.

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Year:  1995        PMID: 7492170      PMCID: PMC1511297          DOI: 10.1136/adc.73.3.256

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  5 in total

1.  Hereditary spastic paraplegia.

Authors:  E R BICKERSTAFF
Journal:  J Neurol Neurosurg Psychiatry       Date:  1950-05       Impact factor: 10.154

2.  Management of children with non-organic (hysterical) disorders of motor function.

Authors:  V Dubowitz; L Hersov
Journal:  Dev Med Child Neurol       Date:  1976-06       Impact factor: 5.449

3.  Hereditary progressive dystonia with marked diurnal fluctuation.

Authors:  M Segawa; A Hosaka; F Miyagawa; Y Nomura; H Imai
Journal:  Adv Neurol       Date:  1976

4.  Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

Authors:  H Ichinose; T Ohye; E Takahashi; N Seki; T Hori; M Segawa; Y Nomura; K Endo; H Tanaka; S Tsuji
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

5.  Dopa-responsive dystonia: long-term treatment response and prognosis.

Authors:  T G Nygaard; C D Marsden; S Fahn
Journal:  Neurology       Date:  1991-02       Impact factor: 9.910

  5 in total
  2 in total

Review 1.  Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.

Authors:  F Sedel; B Fontaine; J M Saudubray; O Lyon-Caen
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

Review 2.  Commentary: Dopaminergic dysfunction in DYT1 dystonia.

Authors:  Thomas Wichmann
Journal:  Exp Neurol       Date:  2008-04-26       Impact factor: 5.330

  2 in total

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