A Family With Parkinson Disease, Essential Tremor, Bell Palsy, and Parkin Mutations

Deng, Hao; Hunter, Christine; Mejia, Nicte I.; Xie, Wen; Jankovic, Joseph

doi:10.1001/archneur.64.3.421

Cited by 24 publications

(23 citation statements)

References 16 publications

(16 reference statements)

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“…It may be due to relatively young age and/or incomplete penetrance. Though heterozygous carriers of parkin mutations have been reported to have minor motor signs or present with late-onset parkinsonism [27], two elder heterozygous c.850G>C carriers (I:1, aged 56 years and I:2, aged 51 years) are free from PD, consistent with a loss-of-function mechanism of the parkin gene and findings from our previous studies [28][29][30]. Heterozygous parkin mutations were reported in only a few patients and may be caused by the second pathogenic mutation escaping detection or digenic inheritance [31].…”

Section: Discussionsupporting

confidence: 83%

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

Chen

Huang

Yuan

et al. 2016

Neuroscience Letters

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Section: Discussionsupporting

confidence: 83%

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

Chen

Huang

Yuan

et al. 2016

Neuroscience Letters

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“…The supernatant was aspirated and 200 μl medium mixed with 3 μl 3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyltetrazolium bromide (MTT) reagent (5 mg/ml) was added to each well. After a 3-h incubation at 37°C, 200 μl of DMSO was added to dissolve the formazan crystals, and the absorbance was then measured at 490 nm using a Digiscan Microplate Reader [4]. Wells without cells were used as blanks and were subtracted as background from each sample.…”

Section: Methodsmentioning

confidence: 99%

Novel ATPase Cu2+ Transporting Beta Polypeptide Mutations in Chinese Families with Wilson's Disease

Yang

et al. 2013

PLoS ONE

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Wilson's disease (WD) is an autosomal recessive inherited disorder caused by mutations in the ATPase Cu2+ transporting beta polypeptide gene (ATP7B). The detailed metabolism of copper-induced pathology in WD is still unknown. Gene mutations as well as the possible pathways involved in the ATP7B deficiency were documented. The ATP7B gene was analyzed for mutations in 18 Chinese Han families with WD by direct sequencing. Cell viability and apoptosis analysis of ATP7B small interfering RNA (siRNA)-treated human liver carcinoma (HepG2) cells were measured by 3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyltetrazolium bromide (MTT) assay and Hoechst 33342 staining. Finally, the expression of B-cell CLL/lymphoma 2 (BCL2), BCL2-associated X protein (BAX), sterol regulatory element binding protein 1 (SREBP1), and minichromosome maintenance protein 7 (MCM7) of ATP7B siRNA-treated cells were tested by real-time polymerase chain reaction (real-time PCR) and Western blot analysis. Twenty different mutations including four novel mutations (p.Val145Phe, p.Glu388X, p.Thr498Ser and p.Gly837X) in the ATP7B gene were identified in our families. Haplotype analysis revealed that founder effects for four mutations (p.Arg778Leu, p.Pro992Leu, p.Ile1148Thr and p.Ala1295Val) existed in these families. Transfection of HepG2 cells with ATP7B siRNA resulted in decreased mRNA expression by 86.3%, 93.1% and 90.8%, and decreased protein levels by 58.5%, 85.5% and 82.1% at 24, 48 and 72 hours, respectively (All P<0.01). In vitro study revealed that the apoptotic, cell cycle and lipid metabolism pathway may be involved in the mechanism of WD. Our results revealed that the genetic cause of 18 Chinese families with WD and ATP7B deficiency-induce apoptosis may result from imbalance in cell cycle and lipid metabolism pathway.

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“…22 Similar nosological confusion has affected PD research, resulting in the pursuit of a common genetic underpinning with ET. 23, 24 …”

Section: The Pitfalls In the Diagnosis Of Etmentioning

confidence: 99%

Essential pitfalls in “essential” tremor

et al. 2017

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While essential tremor has been considered the most common movement disorder, it has largely remained a diagnosis of exclusion: many tremor and non-tremor features must be absent for the clinical diagnosis to stand. The clinical features of “essential tremor” overlap with or may be part of other tremor disorders and, not surprisingly, this prevalent familial disorder has remained without a gene identified, without a consistent natural history, and without an acceptable pathology or pathophysiologic underpinning. The collective evidence suggests that under the rubric of essential tremor there exists multiple unique diseases, some of which represent cerebellar dysfunction, but for which there is no intrinsic “essence” other than a common oscillatory behavior on posture and action. One approach may be to use the term “essential tremor” only as a transitional node in the deep phenotyping of tremor disorders based on historical, phenomenological, and neurophysiological features, to facilitate its etiologic diagnosis or serve for future gene- and biomarker-discovery efforts. This approach deemphasizes essential tremor as a diagnostic entity and facilitates the understanding of the underlying disorders in order to develop biologically tailored diagnostic and therapeutic strategies.

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A Family With Parkinson Disease, Essential Tremor, Bell Palsy, and Parkin Mutations

Cited by 24 publications

References 16 publications

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

Novel ATPase Cu2+ Transporting Beta Polypeptide Mutations in Chinese Families with Wilson's Disease

Essential pitfalls in “essential” tremor

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