Neuropathology provides clues to the pathophysiology of Gaucher disease

Wong, Karen; Sidransky, Ellen; Verma, Ajay; Mixon, Tonghui; Sandberg, Glenn D.; Wakefield, Laura K; Morrison, Alan L.; Lwin, Alicia; Colegial, Carlos; Allman, John M.; Schiffmann, Raphael

doi:10.1016/j.ymgme.2004.04.011

Cited by 410 publications

(361 citation statements)

References 69 publications

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“…In that sense, RBD can be considered as a marker for diffuse synucleinopathy, which may be a better description of the disease than DLB or PD with dementia. Neuropathological data from GBA mutations carriers also demonstrated a more diffuse synucleinopathy (Choi, et al, 2011,Neumann, et al, 2009,Wong, et al, 2004, further supporting this notion. However, others suggest that PD and DLB should remain separate entities, at least until better genetic, molecular and clinical data will allow better definitions of these diseases and their potential subgroups (Boeve, et al, 2016).…”

Section: Discussionsupporting

confidence: 53%

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

Gan‐Or

Montplaisir

Ross

et al. 2017

Neurobiology of Aging

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The dementia-associated APOE ε4 allele is not associated with REM sleep behavior disorder, Neurobiology of Aging (2016Aging ( ), doi: 10.1016Aging ( /j.neurobiolaging.2016 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. M A N U S C R I P T A C C E P T E D ACCEPTED MANUSCRIPT M A N U S C R I P T A C C E P T E D ACCEPTED MANUSCRIPTAbstract: The current study aimed to examine whether the APOE ε4 allele, associated with dementia with Lewy bodies (DLB), and possibly with dementia in Parkinson's disease (PD), is also associated with idiopathic REM sleep behavior disorder (RBD). Two SNPs, rs429358 and rs7412, were genotyped in RBD patients (n=480) and in controls (n=823). APOE ε4 allele frequency was 0.14 among RBD patients and 0.13 among controls (OR=1.11, 95% CI 0.88-1.40, p=0.41). APOE ε4 allele frequencies were similar in those who converted to DLB (0.14) and those who converted to PD (0.12) or multiple system atrophy (0.14, p=1.0). The APOE ε4 allele is neither a risk factor for RBD nor it is associated with conversion from RBD to DLB or other synucleinopathies.

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Section: Discussionsupporting

confidence: 53%

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

Gan‐Or

Montplaisir

Ross

et al. 2017

Neurobiology of Aging

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“…LB occur in a number of other neurological disorders, including LB dementia (LBD) (13,14); Alzheimer's disease (AD) (15), including cases of familial AD with mutations in the presenilin 1,2 and amyloid precursor protein genes (16); Down's syndrome (17); neurodegeneration with brain iron accumulation type 1 (also known as Hallervorden-Spatz disease) (18); progressive autonomic failure (19); rapid eye movement sleep disorder (20); Parkinsonism-dementia complex of Guam (21); Gaucher's disease (22); and Pick's disease (23).…”

mentioning

confidence: 99%

Lewy bodies

Shults

2006

Proc. Natl. Acad. Sci. U.S.A.

402

277

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Lewy bodies (LB) in the substantia nigra are a cardinal pathological feature of Parkinson's disease, but they occur in a number of neurodegenerative diseases and can be widespread in the nervous system. The characteristics, locations, and composition of LB are reviewed, with particular attention to ␣-synuclein (␣-SYN), which appears to be the major component of LB. The propensity for ␣-SYN, a presynaptic protein widely expressed in the brain, to aggregate is because of an amyloidogenic central region. The factors that favor the aggregation of ␣-SYN and mechanisms of toxicity are examined, and a mechanism through which aggregates of ␣-SYN could induce mitochondrial dysfunction and͞or release of proapoptotic molecules is proposed.

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“…12 The presence of a mask-like facies in many of the Polish patients may represent basal ganglia involvement similar to that suggested in Parkinson's variants in adults. 26 A broad similarity in kyphoscoliosis and lesser IQ involvement, and a commonality of the L444P/L444P genotype exists between the ethnic Poles and Swedes. Indeed, the Polish and Swedish histories have been intertwined for centuries.…”

Section: Discussionmentioning

confidence: 99%