Clinical and neuroimaging features of patient with early-onset Parkinson's disease with dementia carrying SNCA p.G51D mutation

Tokutake, Takayoshi; Ishikawa, A; Yoshimura, Nahoko; Miyashita, Akinori; Kuwano, Ryozo; Nishizawa, Masatoyo; Ikeuchi, Takeshi

doi:10.1016/j.parkreldis.2013.11.008

Cited by 33 publications

(21 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…97,98 In addition, in PDND patients, the H1/H1 genotype was associated with poor visual and memory outcomes, 92,99 although this finding was not replicated in a larger study. 83 Duplications, triplications, 100,101 and some mutations of the SNCA gene that encodes the asynuclein protein 102,103 are associated with early onset dementia, although patients with idiopathic PDD and PDND did not show different polymorphisms of this gene. 104 Interestingly, a recent multicenter study in a…”

Section: Genetic Backgroundmentioning

confidence: 99%

Biomarkers for dementia and mild cognitive impairment in Parkinson's disease

et al. 2016

View full text Add to dashboard Cite

Cognitive decline is one of the most frequent and disabling non-motor features of Parkinson´s disease. Around 30% of patients with Parkinson's disease experience mild cognitive impairment, a well-established risk factor for the development of dementia.However, mild cognitive impairment in patients with Parkinson's disease is a heterogeneous entity that involves different types and extents of cognitive deficits. Since it is not currently known which type of mild cognitive impairment confers a higher risk of progression to dementia, it would be useful to define biomarkers that could identify these patients to better study disease progression and possible interventions. In this sense, the identification among patients with Parkinson's disease and mild cognitive impairment of biomarkers associated with dementia would allow the early detection of this process. This review summarizes studies from the last 25 years that have assessed potential biomarkers of dementia and mild cognitive impairment in Parkinson's disease patients. Despite the potential importance, no biomarker has as yet been validated. However, features such as low levels of epidermal and insulin-like growth factors or uric acid in plasma/serum and of Aß in CSF, reduction of cerebral cholinergic innervation and metabolism measured by 3 PET mainly in posterior areas, and hippocampal atrophy in MRI might be indicative of dementia or of subgroups of patients with distinct subtypes of cognitive deficits with a distinct risk of dementia. Therefore, longitudinal studies combining the existing techniques and new approaches will be needed to identify patients at higher risk of dementia.

show abstract

Section: Genetic Backgroundmentioning

confidence: 99%

Biomarkers for dementia and mild cognitive impairment in Parkinson's disease

et al. 2016

View full text Add to dashboard Cite

show abstract

“…The recently described mutation, G51D, is presented as a co-segregator of diseases in French, Japanese and British families [67][68][69][70][71]. This mutation was not detected in the control group and it is predicted to be of the functional type.…”

Section: Autosomic Dominant Forms Of Parkinson Diseasementioning

confidence: 94%

Genes involved in the development of Parkinson

Teixeira¹,

Cardoso²

2017

Open J Parkinsons Dis Treatm

View full text Add to dashboard Cite

Background: Parkinson's disease is the second most important neurodegenerative disorder, affecting 3% of individuals older than 80 years of age. Main clinical symptoms are resting tremor, postural instability, bradykinesia and rigidity, with a good response to levodopa therapy. Purpose of the study:The main goal of this work is to make a deep analysis on the genetic factors and kind of heritage involved in the development of Parkinson. Main fi ndings:Over the last years, numerous studies allowed to confirm the unquestionable contribution of genetic factors to the complex pathogenesis of this disease. Highly penetrant mutations producing rare, monogenic forms of the disease have been identifi ed in singular genes such as SNCA, Parkin, DJ-1, PINK1, LRRK2, and VPS35. Unique variants with incomplete penetrance in LRRK2 and GBA genes were identifi ed as strong risk factors for Parkinson's disease in certain populations. Additionally, over 20 common variants with small effect sizes are now recognized to modulate the risk for Parkinson's disease.Investigating Mendelian forms of Parkinson disease has provided precious insight into the pathophysiology that underlies the more common idiopathic form of this disorder. Conclusions:The challenge over the next decade will be to get more data that strengthens the already available knowledge concerning genetics on Parkinson's disease, through the discovery of biological consequences of risk variants. Moreover, it is also expected that the advent of genome-wide association studies and the implementation of new research technologies will help in the identifi cation of novel risk variants for the sporadic forms of Parkinson disease.

show abstract

“…Die G51D SNCA heterozygote Mutation ist vergesellschaftet mit mäßig auf Dopa ansprechendem PS mit PBZ, kognitivem Abbau und Dysautonomie, das zwischen dem 28 und 68 Lebensjahr beginnt (55,56).…”

Section: Klassische Progressive Supranukleärer Blickparese Psp-r Odeunclassified

Seltene Parkinson-Syndrome

Ceballos-Baumann¹

2018

Nervenheilkunde

View full text Add to dashboard Cite

ZusammenfassungDie verschiedenen Parkinson-Syndrome (PS) klinisch einzelnen Krankheitsentitäten zuzuordnen, gilt als schwierig. Es sind viele seltene Parkinson-Syndrome von dem häufigen sporadischen idiopathischen Parkinson-Syndrom (IPS) zu differenzieren. Zum Teil neu aufgelegte Kriterien für das IPS und die atypischen Parkinson-Syndrome wie Demenz vom Lewy-Body-Typ (DLB), Multisystematrophie (MSA), progressiver supranukleärer Blickparese (PSP) und kortikobasales Syndrom (CBS) sollten die diagnostische Einordnung verbessern. Patienten mit vom sporadischen IPS kaum unterscheidbaren monogenetischem PS, z. B. mit LRRK2-Mutationen oder mit einem Risikogen, z. B. Mutationen im GBAGen, können relativ einfach genetisch diagnostiziert werden. Bei jungen PS-Patienten müssen komplexe Krankheiten wie z. B. das häufige Mikrodeletionssyndrom 22q11.2 (Di-George-Syndrom), Morbus Wilson und “Morbus Fahr” sowie die Gruppe der Neurodegenerationen mit Eisenablagerung im Gehirn (NBIAs) berücksichtigt werden.

show abstract

Clinical and neuroimaging features of patient with early-onset Parkinson's disease with dementia carrying SNCA p.G51D mutation

Cited by 33 publications

References 5 publications

Biomarkers for dementia and mild cognitive impairment in Parkinson's disease

Biomarkers for dementia and mild cognitive impairment in Parkinson's disease

Genes involved in the development of Parkinson

Seltene Parkinson-Syndrome

Contact Info

Product

Resources

About