Literature DB >> 1185223

Progressive myoclonic epilepsy due to Gaucher's disease in an adult.

J O King.   

Abstract

A 39 year old Jewish male with a 22 year history of progressive myoclonic epilepsy was found to have Gaucher cells in his sternal bone marrow. The diagnosis of Gaucher's disease was confirmed by the demonstration of beta-glucosidase deficiency in fibroblasts. Although neurological involvement is extremely rare in adults with Gaucher's disease, this disease is another lipidosis which should be considered in patients with progressive myoclonic epilepsy.

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Year:  1975        PMID： 1185223      PMCID： PMC492113          DOI： 10.1136/jnnp.38.9.849

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


  22 in total

1.  AN ATROPHIC TYPE OF AMAUROTIC IDIOCY REPORT OF TWO CASES.

Authors:  E DE VRIES; A P AMIR
Journal:  Psychiatr Neurol Neurochir       Date:  1964 May-Jun

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

3.  A CASE OF LATE INFANTILE AMAUROTIC IDIOCY OF THE MYOCLONUS TYPE.

Authors:  L Klinken‐Rasmussen; H V Dyggve
Journal:  Acta Neurol Scand       Date:  1965       Impact factor: 3.209

4.  Neurological signs in a juvenile form of Gaucher's disease.

Authors:  K M HERRLIN; P O HILLBORG
Journal:  Acta Paediatr       Date:  1962-03       Impact factor: 2.299

5.  [Gaucher's disease in Norrbotten].

Authors:  P O HILLBORG
Journal:  Nord Med       Date:  1959-02-19

6.  A case of juvenile Gaucher's disease with intraneuronal lipid storage.

Authors:  A F MALONEY; J N CUMINGS
Journal:  J Neurol Neurosurg Psychiatry       Date:  1960-08       Impact factor: 10.154

7.  Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis.

Authors:  D G HARRIMAN; J H MILLAR; A C STEVENSON
Journal:  Brain       Date:  1955-09       Impact factor: 13.501

8.  [Histochemical studies on globoid bodies in Krabbe's familial infantile diffuse sclerosis, with a contribution on the differential diagnosis of central nervous system changes in Gaucher's disease].

Authors:  P B DIEZEL
Journal:  Virchows Arch Pathol Anat Physiol Klin Med       Date:  1955

9.  Progressive myoclonus epilepsy without Lafora bodies.

Authors:  W B Matthews; D A Howell; D L Stevens
Journal:  J Neurol Neurosurg Psychiatry       Date:  1969-04       Impact factor: 10.154

10.  Gaucher cells in chronic myelocytic leukemia: an acquired abnormality.

Authors:  H E Kattlove; J C Williams; E Gaynor; M Spivack; R M Bradley; R O Brady
Journal:  Blood       Date:  1969-02       Impact factor: 22.113
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  12 in total

1.  Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease.

Authors:  Y B Chiao; G M Hoyson; S P Peters; R E Lee; W Diven; J V Murphy; R H Glew
Journal:  Proc Natl Acad Sci U S A       Date:  1978-05       Impact factor: 11.205

2.  Neurological involvement in type 1 (adult) Gaucher's disease.

Authors:  R O McKeran; P Bradbury; D Taylor; G Stern
Journal:  J Neurol Neurosurg Psychiatry       Date:  1985-02       Impact factor: 10.154

3.  Juvenile Gaucher's disease with horizontal gaze palsy in three siblings.

Authors:  J H Tripp; B D Lake; E Young; J Ngu; E M Brett
Journal:  J Neurol Neurosurg Psychiatry       Date:  1977-05       Impact factor: 10.154

4.  Central nervous system involvement in adult-onset Gaucher's disease.

Authors:  D Soffer; T Yamanaka; D A Wenger; K Suzuki; K Suzuki
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088

5.  Gaucher disease--Norrbottnian type. I. General clinical description.

Authors:  S Dreborg; A Erikson; B Hagberg
Journal:  Eur J Pediatr       Date:  1980-03       Impact factor: 3.183

6.  Characterization of the baboon responses to Shiga-like toxin: descriptive study of a new primate model of toxic responses to Stx-1.

Authors:  F B Taylor; V L Tesh; L DeBault; A Li; A C Chang; S D Kosanke; T J Pysher; R L Siegler
Journal:  Am J Pathol       Date:  1999-04       Impact factor: 4.307

7.  Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings.

Authors:  N Conradi; M Kyllerman; J E Månsson; A K Percy; L Svennerholm
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

8.  Cauda equina syndrome due to an intra-dural sacral cyst in type-1 Gaucher disease.

Authors:  Abderrahmane Hamlat; Stephan Saikali; Mohamed Lakehal; Michèle Pommereuil; Xavier Morandi
Journal:  Eur Spine J       Date:  2003-12-20       Impact factor: 3.134

Review 9.  Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.

Authors:  F Sedel; I Gourfinkel-An; O Lyon-Caen; M Baulac; J-M Saudubray; V Navarro
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

Review 10.  'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.

Authors:  M Biegstraaten; I N van Schaik; J M F G Aerts; C E M Hollak
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.750
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