Literature DB >> 2712947

Oculomotor apraxia: the presenting sign of Gaucher disease.

V Gross-Tsur1, Y Har-Even, I Gutman, N Amir.   

Abstract

Oculomotor apraxia may be idiopathic or a symptom of a variety of diseases. In Gaucher disease, oculomotor deficit is characterized by a failure of volitional horizontal gaze with preservation of vertical movements. We present 2 sisters, 6 1/2 and 5 1/2 years of age, in whom the presenting sign was oculomotor apraxia. Oculomotor apraxia has not been previously reported as the presenting manifestation of Gaucher disease.

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Year:  1989        PMID: 2712947     DOI: 10.1016/0887-8994(89)90042-8

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  4 in total

1.  Intracellular degradation of fluorescent glycolipids by lysosomal enzymes and their activators.

Authors:  L Madar-Shapiro; M Pasmanik-Chor; T Dinur; A Dagan; S Gatt; M Horowitz
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.

Authors:  M Horowitz; G Tzuri; N Eyal; A Berebi; E H Kolodny; R O Brady; N W Barton; A Abrahamov; A Zimran
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

3.  Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Authors:  A Chabás; B Cormand; D Grinberg; J M Burguera; S Balcells; J L Merino; I Mate; J A Sobrino; R Gonzàlez-Duarte; L Vilageliu
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

4.  Saccadic Impairments in Patients with the Norrbottnian Form of Gaucher's Disease Type 3.

Authors:  Josefine Blume; Stanislav Beniaminov; Cecilia Kämpe Björkvall; Maciej Machaczka; Per Svenningsson
Journal:  Front Neurol       Date:  2017-06-22       Impact factor: 4.003

  4 in total

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