Central Nervous System Involvement in Adult-onset Gaucher's Disease

Overview

Journal Acta Neuropathol

Specialty Neurology

Date 1980 Jan 1

PMID 7355669

Citations 5

Authors

D Soffer

T Yamanaka

D A Wenger

K Suzuki

Affiliations

Soon will be listed here.

Abstract

Neuropathological findings are reported in an adult with Gaucher's disease. In this patient, Gaucher cells with characteristic storage material were found throughout the brain and also in the leptomeninges. They were confined to the perivascular space of small blood vessels and were commonly associated with intense perivascular, glio-mesodermal fibrillary reaction. Neuronal storage was not seen. Glucosylceramidase activities were severely deficient in both brain and liver and glucosylceramide was abnormally increased in the liver of this patient. The significance of the neuropathological changes is briefly discussed.

Citing Articles

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.

Furderer M, Hertz E, Lopez G, Sidransky E Int J Mol Sci. 2022; 23(10).

PMID: 35628652 PMC: 9147326. DOI: 10.3390/ijms23105842.

Parkinson's Disease Associated with GBA Gene Mutations: Molecular Aspects and Potential Treatment Approaches.

Senkevich K, Kopytova A, Usenko T, Emelyanov A, Pchelina S Acta Naturae. 2021; 13(2):70-78.

PMID: 34377557 PMC: 8327146. DOI: 10.32607/actanaturae.11031.

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process.

Hulkova H, Ledvinova J, Poupetova H, Kohout A, Malinova V, Elleder M J Inherit Metab Dis. 2009; 32(4):551-9.

PMID: 19557545 DOI: 10.1007/s10545-009-1178-9.

'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.

Biegstraaten M, van Schaik I, Aerts J, Hollak C J Inherit Metab Dis. 2008; 31(3):337-49.

PMID: 18404411 DOI: 10.1007/s10545-008-0832-y.

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

McKeran R, Bradbury P, Taylor D, Stern G J Neurol Neurosurg Psychiatry. 1985; 48(2):172-5.

PMID: 3981177 PMC: 1028222. DOI: 10.1136/jnnp.48.2.172.

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