Literature DB >> 19590844

[Cerebellar syndrome in Gaucher's disease].

B Ukley1, A Bachhuber, W Hermann.   

Abstract

This is a report on a 37-year-old female patient with enzymatically verified Gaucher's disease. The clinical symptoms corresponded to the neuronopathic form of the disease (type 3). A progressive cerebellar syndrome had been developing for 1 year. So far, there have been no records of complex cerebellar symptoms in connection with Gaucher's disease in the literature. After ruling out other differential diagnoses Gaucher's disease was considered to be the cause of such cerebellar symptoms, which could be attributed to toxic glucocerebroside deposits in the cerebellum.

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Year:  2009        PMID: 19590844     DOI: 10.1007/s00115-009-2795-0

Source DB:  PubMed          Journal:  Nervenarzt        ISSN: 0028-2804            Impact factor:   1.214


  7 in total

1.  The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.

Authors:  G Altarescu; S Hill; E Wiggs; N Jeffries; C Kreps; C C Parker; R O Brady; N W Barton; R Schiffmann
Journal:  J Pediatr       Date:  2001-04       Impact factor: 4.406

2.  METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

Authors:  R O BRADY; J N KANFER; D SHAPIRO
Journal:  Biochem Biophys Res Commun       Date:  1965-01-18       Impact factor: 3.575

Review 3.  Gaucher disease: review of the literature.

Authors:  Mingyi Chen; Jun Wang
Journal:  Arch Pathol Lab Med       Date:  2008-05       Impact factor: 5.534

Review 4.  [Diagnosis and therapy of Gaucher disease. Current recommendations of German therapy centers in the year 2000].

Authors:  C Niederau; A Rolfs; S vom Dahl; D Häussinger; L W Poll; E Mengel; M Beck
Journal:  Med Klin (Munich)       Date:  2001-01-15

5.  Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.

Authors:  Eduard Orvisky; Joseph K Park; Mary E LaMarca; Edward I Ginns; Brian M Martin; Nahid Tayebi; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2002-08       Impact factor: 4.797

6.  Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease.

Authors:  O Nilsson; L Svennerholm
Journal:  J Neurochem       Date:  1982-09       Impact factor: 5.372

7.  Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3.

Authors:  U H Schueler; T Kolter; C R Kaneski; J K Blusztajn; M Herkenham; K Sandhoff; R O Brady
Journal:  Neurobiol Dis       Date:  2003-12       Impact factor: 5.996

  7 in total
  1 in total

1.  Are There Neurological Symptoms in Type 1 of Gaucher Disease?

Authors:  Mohammadreza Alaei; Narjes Jafari; Farzaneh Rohani; Farzad Ahmadabadi; Rezvan Azadi
Journal:  Iran J Child Neurol       Date:  2018
  1 in total

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