Familial Occurrence of Dementia With Lewy Bodies

Tsuang, Debby W.; DiGiacomo, Lillian; Bird, Thomas D.

doi:10.1097/00019442-200403000-00009

Cited by 32 publications

(6 citation statements)

References 36 publications

(13 reference statements)

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“…The hippocampal CA2 region is thought to be especially vulnerable to this α -synuclein post-translational modification [39]. Similarly, mutations in the SNCA , or Synuclein-Alpha (non-A4 component of amyloid precursor) gene [40] as well as the overproduction of α -synuclein [41] in some rare cases of familial DLB give rise to the characteristic pathology in DLB, and provide further insights into the altered processing of this synaptic protein.…”

Section: Methodsmentioning

confidence: 99%

Cerebrospinal Fluid Biomarkers for Dementia with Lewy Bodies

Mukaetova‐Ladinska

Monteith

Perry

2010

International Journal of Alzheimer's Disease

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More than 750,000 of the UK population suffer from some form of cognitive impairment and dementia. Of these, 5–20% will have Dementia with Lewy Bodies (DLB). Clinico-pathological studies have shown that it is the low frequency of DLB clinical core features that makes the DLB diagnosis hardly recognisable during life, and easily misdiagnosed for other forms of dementia. This has an impact on the treatment and long-term care of the affected subjects. Having a biochemical test, based on quantification of a specific DLB biomarker within Cerebrospinal Fluid (CSF) could be an effective diagnostic method to improve the differential diagnosis. Although some of the investigated DLB CSF biomarkers are well within the clinical criteria for sensitivity and specificity (>90%), they all seem to be confounded by the contradictory data for each of the major groups of biomarkers (α-synuclein, tau and amyloid proteins). However, a combination of CSF measures appear to emerge, that may well be able to differentiate DLB from other dementias: α-synuclein reduction in early DLB, a correlation between CSF α-synuclein and Aβ42 measures (characteristic for DLB only), and t-tau and p-tau181 profile (differentiating AD from DLB).

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Section: Methodsmentioning

confidence: 99%

Cerebrospinal Fluid Biomarkers for Dementia with Lewy Bodies

Mukaetova‐Ladinska

Monteith

Perry

2010

International Journal of Alzheimer's Disease

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“…Several mutations have been identifi ed in the ␣ -synuclein gene on chromosome 4 in PD and DLB, including the A53T and E46K mutations [114,135] . DLB and PD may have similar inheritance patterns and may share similar genetic risk factors, providing support for the idea that PD and DLB are part of a single disease spectrum [133][134][135] .…”

Section: Geneticsmentioning

confidence: 69%

“…Although the majority of DLB cases are sporadic, some families have been identifi ed with more than one family member meeting criteria for LB diseases such as DLB, PD and PDD [133,134] . These families have demonstrated diverse clinical and pathological fi ndings.…”

Section: Geneticsmentioning

confidence: 99%

Dementia with Lewy Bodies: Current Concepts

Buracchio

Arvanitakis²,

Gorbien³

2005

Dement Geriatr Cogn Disord

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As life expectancy continues to increase over time, dementia is becoming an increasingly more common problem and a major cause of disability in older persons. It is now more important than ever to identify and manage common causes of dementia given variations in disease course, treatments and the possibility for modification of risk factors. Dementia with Lewy bodies (DLB) is a dementia syndrome characterized by progressive cognitive decline, with fluctuating cognition, recurrent detailed and well-formed hallucinations, and parkinsonism. This article aims to provide an overview of current concepts of DLB, including a description of the key clinical features and neuropathology, neurochemistry, and genetics of DLB, then a discussion of the relationship of DLB with Alzheimer’s disease and Parkinson’s disease, and, finally, a summary of current management strategies available for this disorder.

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“…It is now clear that DLB has a strong genetic component. Although most cases are sporadic, a number of reports have demonstrated the occurrence of the disorder in families [ 5 – 13 ], in addition to the identification of genetic loci that modulate risk for the development of DLB [ 14 , 15 , 16 ••]. As such, using common genetic variants, the proportion of the phenotype that can be attributed to genetic factors was estimated to be 36% [ 16 ••].…”

Section: Introductionmentioning

confidence: 99%

The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions

Orme

Guerreiro

Brás

2018

Curr Neurol Neurosci Rep

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Purpose of ReviewDementia with Lewy bodies (DLB) is a neurodegenerative disease that can be clinically and pathologically similar to Parkinson’s disease (PD) and Alzheimer’s disease (AD). Current understanding of DLB genetics is insufficient and has been limited by sample size and difficulty in diagnosis. The first genome-wide association study (GWAS) in DLB was performed in 2017; a time at which the post-GWAS era has been reached in many diseases.Recent FindingsDLB shares risk loci with AD, in the APOE E4 allele, and with PD, in variation at GBA and SNCA. Interestingly, the GWAS suggested that DLB may also have genetic risk factors that are distinct from those in AD and PD.SummaryAlthough off to a slow start, recent studies have reinvigorated the field of DLB genetics and these results enable us to start to have a more complete understanding of the genetic architecture of this disease.

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Familial Occurrence of Dementia With Lewy Bodies

Cited by 32 publications

References 36 publications

Cerebrospinal Fluid Biomarkers for Dementia with Lewy Bodies

Cerebrospinal Fluid Biomarkers for Dementia with Lewy Bodies

Dementia with Lewy Bodies: Current Concepts

The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions

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