Hyposmia and cognitive impairment in Gaucher disease patients and carriers.

Movement Disorders : Official Journal of the Movement Disorder Society
Alisdair McNeillAnthony H V Schapira

Abstract

The objective of this study was to assess a cohort of Gaucher disease patients and their heterozygous carrier relatives for potential clinical signs of early neurodegeneration. Gaucher disease patients (n = 30), heterozygous glucocerebrosidase mutation carriers (n = 30), and mutation-negative controls matched by age, sex, and ethnicity (n = 30) were recruited. Assessment was done for olfactory function (University of Pennsylvania Smell Identification Test), cognitive function (Mini-Mental State Examination, Montreal Cognitive Assessment), rapid eye movement sleep disorder, autonomic symptoms, and parkinsonian motor signs (Unified Parkinson's Disease Rating Scale part III, Purdue pegboard). Olfactory function scores were significantly lower in Gaucher disease patients (P = .010) and heterozygous carriers (P < .001) than in controls. Cognitive assessment scores were significantly lower in Gaucher disease patients (P = .002) and carriers (P = .002) than in controls. Unified Parkinson's Disease Rating Scale motor subscale scores were significantly higher in Gaucher disease patients (P < .001) and heterozygotes (P = .0010) than in controls. There was no difference in scores for symptoms of rapid eye movement sleep disorder or autono...Continue Reading

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Citations

Jan 31, 2013·Molecular Neurobiology·Stephen Mullin, Anthony Schapira
Jan 7, 2014·PloS One·Marina HovakimyanMartin Witt
Jun 13, 2014·Brain : a Journal of Neurology·Nahid ZokaeiMasud Husain
Jan 9, 2016·Neurochemistry International·Melinda BarkhuizenAnne F Grobler
Dec 12, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Raquel DuranTom Foltynie
Mar 21, 2016·Journal of Neurology·Ivanka MarkovićVladimir S Kostić
Jan 13, 2016·Journal of Parkinson's Disease·Pierpaolo SorrentinoValeria Agosti
Jan 13, 2015·Progress in Neurobiology·S Pablo SardiLamya S Shihabuddin
Mar 31, 2015·Cellular and Molecular Neurobiology·Yaqiong LiJianshe Wei
Oct 20, 2012·Lancet Neurology·Ellen Sidransky, Grisel Lopez
Mar 25, 2015·Molecular and Cellular Neurosciences·Anthony H V Schapira
Apr 20, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Anthony H V SchapiraLucilla Parnetti
May 4, 2013·Molecular Genetics and Metabolism·Alisdair McNeillAnthony H V Schapira
Jan 9, 2013·Proceedings of the National Academy of Sciences of the United States of America·S Pablo SardiLamya S Shihabuddin
Jun 1, 2016·Frontiers in Psychiatry·Lucy M Collins, Caroline H Williams-Gray
Oct 25, 2016·Journal of the Neurological Sciences·Matthew SwanRachel Saunders-Pullman
Apr 22, 2017·International Journal of Molecular Sciences·Dino Matias Santos, Gustavo Tiscornia
May 27, 2017·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Byron CreeseDag Aarsland
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Jun 10, 2017·Journal of Parkinson's Disease·Grace O'ReganAnthony H Schapira
Jun 16, 2018·Current Allergy and Asthma Reports·Concepció MarinJoaquim Mullol
Feb 6, 2018·The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry·Roberta Balestrino, Anthony H V Schapira
May 18, 2018·Journal of Neurochemistry·Lauren C Boudewyn, Steven U Walkley
Sep 1, 2018·Annual Review of Genomics and Human Genetics·Amanda KrauseMichèle Ramsay
Sep 27, 2018·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·K A SenkevichS N Pchelina
Nov 18, 2018·The European Journal of Neuroscience·Richard Nathaniel ReesAnette Schrag
Dec 28, 2018·Movement Disorders : Official Journal of the Movement Disorder Society·Fabio BlandiniJosé L Lanciego
Mar 29, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Ronald B Postuma, Daniela Berg
Jan 7, 2019·The British Journal of Ophthalmology·Aaron W WinterJonathan C P Roos
Jun 13, 2019·Current Opinion in Neurology·Emory RyanEllen Sidransky
Jun 22, 2019·Journal of Neurology, Neurosurgery, and Psychiatry·Micol AvenaliAnthony H V Schapira
Feb 6, 2020·Journal of Neuropathology and Experimental Neurology·Kelly Del TrediciHeiko Braak
Jun 6, 2020·Journal of Movement Disorders·Jan O Aasly
Sep 29, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Shani BlumenreichAnthony H Futerman
Nov 20, 2016·Annals of Neurology·Anna Migdalska-RichardsAnthony H V Schapira
Oct 14, 2018·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S MullinA H V Schapira
Jun 30, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Stephen MullinAnthony H V Schapira
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