'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.

Journal of Inherited Metabolic Disease
M BiegstraatenCarla E M Hollak

Abstract

Gaucher disease is a lysosomal storage disorder, which is classically divided into three types. Type I Gaucher disease is differentiated from types II and III disease by the absence of nervous system involvement. However, an increasing number of reports has emerged on neurological manifestations in patients with type I Gaucher disease. Whether a strict division in three different phenotypes is still valid has been the subject of debate. The main objective of this study was to provide scientific arguments whether a distinction between type I (non-neuronopathic) and types II and III (neuronopathic) Gaucher disease should be maintained. We investigated retrospectively a large Dutch cohort of type I Gaucher disease patients for the prevalence of neurological manifestations and provide an overview of the literature on this topic. A diagnosis of a neurological disease was made 34 times in 75 patients. Forty-five patients reported at least one neurological symptom during the median follow-up time of 11 years. The literature search revealed 86 studies in which type I Gaucher disease patients or carriers of a glucocerebrosidase mutation were described with a neurological disease or a condition which is known to be associated with neurol...Continue Reading

References

Jan 4, 1975·Lancet·M D BensonE S Cathcart
Feb 1, 1979·Scandinavian Journal of Haematology·D BenjaminJ Pinkhas
Jan 1, 1978·Acta Haematologica·D BenjaminJ Pinkhas
Oct 1, 1979·Clinical EEG (electroencephalography)·J F NeilR H Glew
Nov 1, 1978·Annals of Internal Medicine·S M HanashN S Radin
Sep 1, 1975·Journal of Clinical Pathology·M MacDonaldD Shaw
Sep 1, 1975·Journal of Neurology, Neurosurgery, and Psychiatry·J O King
Jul 1, 1992·La Revue de médecine interne·R M FlipoB Duquesnoy
Dec 1, 1991·Archives of Neurology·R P GrewalN W Barton
Jan 1, 1989·Radiology·G HermannR I Ulin
Dec 1, 1988·American Journal of Hematology·G E MartiH R Gralnick
Aug 1, 1987·Neurosurgery·J GoldblattD Dall
Feb 1, 1985·Journal of Neurology, Neurosurgery, and Psychiatry·R O McKeranG Stern
Jul 1, 1974·Postgraduate Medicine·M M Rymer, C C Kao
Jun 1, 1973·Annals of Internal Medicine·J D MillerJ N Kanfer
Jan 1, 1982·Journal of Neuropathology and Experimental Neurology·J C LyonsW W Ginsburg
Apr 1, 1984·Surgical Neurology·R S Markin, F M Skultety
Jan 1, 1982·Annals of the New York Academy of Sciences·E A RachmilewitzM Acker
Jan 1, 1982·Scandinavian Journal of Haematology·J P MarieJ Diebold
Nov 1, 1982·Archives of Internal Medicine·D GarfinkelJ Pinkhas
Jan 1, 1980·Acta Neuropathologica·D SofferK Suzuki
Aug 1, 1980·Archives of Internal Medicine·P C RuestowS Rosenfeld
Jan 1, 1995·Human Mutation·B CormandA Chabás
Feb 1, 1994·Clinical Neurology and Neurosurgery·J Haan, W G Peters
Apr 1, 1993·La Revue de médecine interne·D NeauM Le Bras
Feb 1, 1996·Epilepsia·A de la CourtA Hofman
Dec 1, 1995·Leukemia & Lymphoma·L ShvidelA Berrebi
Sep 1, 1996·QJM : Monthly Journal of the Association of Physicians·O NeudorferA Zimran
Nov 1, 1996·Virchows Archiv : an International Journal of Pathology·M HrebícekM Elleder
Jan 1, 1996·European Journal of Human Genetics : EJHG·A Tylki-SzymańskaB Czartoryska
Sep 17, 1998·Archives of Internal Medicine·J CharrowJ S Wisch
Dec 1, 1998·Journal of Medical Genetics·A van Royen-KerkhofF A Beemer
Dec 17, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·B HemmerC H Lücking
Jan 23, 1999·Journal of Geriatric Psychiatry and Neurology·S K Inouye
Jul 9, 1999·American Journal of Hematology·M MachaczkaW Jurczak
Jul 20, 1999·JAMA : the Journal of the American Medical Association·I AtroshiI Rosén
Jan 5, 2000·Journal of Internal Medicine·A KaloterakisS Hadziyannis
May 16, 2000·Tropical Medicine & International Health : TM & IH·K A BojangB M Greenwood
May 24, 2000·Journal of Pediatric Orthopedics·M S Kocher, J E Hall

❮ Previous
Next ❯

Citations

Jan 12, 2011·Wiener medizinische Wochenschrift·Gregory M Pastores
Nov 10, 2009·Journal of Inherited Metabolic Disease·S B WortmannE Morava
Dec 5, 2013·The Journal of Laryngology and Otology·A KhanN Patel
Aug 10, 2010·Brain : a Journal of Neurology·Marieke BiegstraatenIvo N van Schaik
Apr 20, 2001·AJR. American Journal of Roentgenology·L A BergerA Mehta
Sep 8, 2011·Indian Journal of Endocrinology and Metabolism·Vijay Bohra, Velu Nair
Apr 16, 2014·Orphanet Journal of Rare Diseases·Laura van DussenMarcel G W Dijkgraaf
Mar 30, 2011·Journal of Inherited Metabolic Disease·Johannes M F G AertsRolf G Boot
Sep 15, 2012·Journal of Inherited Metabolic Disease·Neal J WeinrebCarla Hollak
Jun 10, 2010·Journal of Inherited Metabolic Disease·P ChérinA Hartmann
Nov 8, 2014·Calcified Tissue International·Gemma MarcucciMaria Luisa Brandi
Sep 24, 2009·Biologics : Targets & Therapy·Deborah Elstein, Ari Zimran
Feb 7, 2015·Pharmacoepidemiology and Drug Safety·Monika BrandDerralynn Hughes
Jul 16, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Araceli Alonso-CanovasKailash P Bhatia
Nov 20, 2012·Blood Cells, Molecules & Diseases·Filippo VairoIda Vanessa D Schwartz
Nov 26, 2015·Blood Cells, Molecules & Diseases·Pilar GiraldoJavier de la Serna
Jun 10, 2009·Pharmacoepidemiology and Drug Safety·Carla E M HollakBruno Bembi
Jun 11, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Ichraf KraouaFrédéric Sedel
Jun 26, 2013·Developmental Disabilities Research Reviews·Carlos E Prada, Gregory A Grabowski
May 28, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Tamar ShacharAnthony H Futerman
Jan 15, 2015·Journal of the Peripheral Nervous System : JPNS·Anne VitalClaude Vital
Oct 1, 2008·Biochimica Et Biophysica Acta·Frances M Platt, Robin H Lachmann
Jun 15, 2011·Blood·Ari Zimran
May 20, 2014·Blood Cells, Molecules & Diseases·Elena LukinaJudith M Peterschmitt
Jan 7, 2019·The British Journal of Ophthalmology·Aaron W WinterJonathan C P Roos
Feb 22, 2012·Diagnostic Cytopathology·Sara E MonacoLiron Pantanowitz
Jul 30, 2014·Journal of Toxicology and Environmental Health. Part a·C ViegasS Viegas
Oct 28, 2019·Scientific Reports·Mattias AndréassonPer Svenningsson
Feb 26, 2013·Biological Chemistry·Na-Young YangSeung-Jae Lee
Jun 13, 2015·Stem Cells Translational Medicine·Judi A SgambatoRicardo A Feldman
Aug 17, 2018·Orphanet Journal of Rare Diseases·Mercè PinedaMarc C Patterson
Sep 2, 2017·Orphanet Journal of Rare Diseases·Grazia DevigiliBruno Bembi
Jul 6, 2019·Journal of Diabetes and Metabolic Disorders·Majid DavariPeymaneh Sarkheil
Dec 19, 2020·Orphanet Journal of Rare Diseases·Aimee DonaldErich Schneider
Jan 25, 2021·Molecular Genetics and Metabolism·Neal J WeinrebUNKNOWN International Collaborative Gaucher Group (ICGG) Gaucher Registry (NCT00358943) investigators
Oct 16, 2021·Orphanet Journal of Rare Diseases·Simona D'AmoreUNKNOWN MRC GAUCHERITE Consortium

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Journal of Neurology, Neurosurgery, and Psychiatry
J L CapabloSpanish Group on Gaucher Disease
Journal of Inherited Metabolic Disease
Gregory M PastoresEdwin H Kolodny
© 2022 Meta ULC. All rights reserved