Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier

Kono, Satoshi; Shirakawa, Kentaro; Ouchi, Yasuomi; Sakamoto, Masanobu; Ida, Hiroyuki; Sugiura, T.; Tomiyama, Hiroyuki; Suzuki, Hitoshi; Takahashi, Yoshitomo; Miyajima, Hiroaki; Mizuno, Yoshikuni

doi:10.1016/j.jns.2006.10.019

Cited by 30 publications

(32 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In contrast, 11 C-RAC binding in the caudate and putamen nuclei was normal in both patients [35]. These findings, together with those in another published case [33], are highly reminiscent of iPD. …”

Section: Functional Imagingmentioning

confidence: 63%

“…PINK1 and SNCA mutation patients had instead a relatively symmetrical loss. After the inspection of the published images of the papers of Kono et al [33] and Sunwoo et al [37], we concluded that also the patients described in these papers presented a clear right to left asymmetry of striatal uptake. In the discussion, the authors attributed the difference of symmetry of radioligand uptake to the pathogenetic mechanism.…”

Section: Functional Imagingmentioning

confidence: 74%

“…The first fluorodeoxyglucose (FDG) scan in a patient with GBA mutation was conducted in a nondemented 42-year-old patient affected by Gaucher type 1 and parkinsonism which revealed a hypometabolism in the frontal and parietal cortices and a preservation of the striatum [33]. In 2010, Kono et al [16] conducted FDG scans in a patient with GD and parkinsonism, in 2 patients with heterozygous GBA mutations and parkinsonism and in 3 patients with GBA mutations without parkinsonism.…”

Section: Functional Imagingmentioning

confidence: 99%

“…Kono et al [33] reported the case of 2 Japanese relatives affected by type 3 GD heterozygous for L444P mutations and a rigid-akinetic parkinonism. The 11 C-CFT [2β-carbomethoxy-3β-(4-fluorophenyl)tropane] PET evidenced a significant presynaptic dysfunction, with a severe reduction in both putamen and caudate nucleus.…”

Section: Functional Imagingmentioning

confidence: 99%

See 3 more Smart Citations

Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology

Kiferle

Giuntini²,

Bonuccelli³

et al. 2015

Neurodegener Dis

View full text Add to dashboard Cite

Background: Glucocerebrosidase (GBA) mutations have been described as the most prevalent in Parkinson's disease (PD) and in Lewy body dementia, accounting for up to 7 and 13.8% of cases, respectively. To elucidate the pathophysiology of idiopathic Parkinson's disease (iPD), the pathogenic mechanisms leading to Lewy body accumulation in GBA-associated parkinsonism (GBA-PD) are a matter of current research. However, only few imaging studies, conducted on small GBA-PD patient cohorts, exist. Methods: We provide an overview of current structural and functional imaging studies in patients with Gaucher's disease and parkinsonism and in GBA-PD patients, underlining the main differences compared to iPD. Results: A limited number of PET studies have been conducted in GBA-PD, exploring brain metabolism and dopaminergic presynaptic and postsynaptic function. Moreover, structural MRI and spectroscopy studies recently evidenced the differences with iPD, aiding to understand of some peculiar aspects of iPD. Finally, new evidence from transcranial sonography confirms the technique's role in the study of GBA-PD and highlights the additional involvement of the raphe nucleus. Conclusions: Further imaging studies conducted in a broader population of early GBA-PD are warranted to characterize the disease and elucidate the pathophysiological mechanisms underlying GBA-PD and to understand GBA implications in iPD.

show abstract

Section: Functional Imagingmentioning

confidence: 63%

Section: Functional Imagingmentioning

confidence: 74%

Section: Functional Imagingmentioning

confidence: 99%

Section: Functional Imagingmentioning

confidence: 99%

See 2 more Smart Citations

Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology

Kiferle

Giuntini²,

Bonuccelli³

et al. 2015

Neurodegener Dis

View full text Add to dashboard Cite

show abstract

“…Gaucher disease is an autosomal recessive lysosomal lipid storage disease caused by mutations of a lysosomal enzyme, glucocerebroside b-glucosidase. Gaucher disease and its carrier state appear to be risk factors for PD ( Tayebi et al 2003;Ahron-Peretz et al 2004;, 2006Lwin et al 2004;Sato et al 2005;Kono et al 2007). Furthermore, the recently identified ATP13A2, the disease gene for PARK9-linked PD (Kufor-Rakeb syndrome), encodes a lysosomal membrane protein (Ramirez et al 2006).…”

Section: Dysfunction Of Protein Degradation In Pdmentioning

confidence: 99%

Progress in the pathogenesis and genetics of Parkinson's disease

Mizuno

Hattori

Kubo

et al. 2008

Phil. Trans. R. Soc. B

Self Cite

View full text Add to dashboard Cite

Recent progresses in the pathogenesis of sporadic Parkinson's disease (PD) and genetics of familial PD are reviewed. There are common molecular events between sporadic and familial PD, particularly between sporadic PD and PARK1-linked PD due to a-synuclein (SNCA) mutations. In sporadic form, interaction of genetic predisposition and environmental factors is probably a primary event inducing mitochondrial dysfunction and oxidative damage resulting in oligomer and aggregate formations of a-synuclein. In PARK1-linked PD, mutant a-synuclein proteins initiate the disease process as they have increased tendency for self-aggregation. As highly phosphorylated aggregated proteins are deposited in nigral neurons in PD, dysfunctions of proteolytic systems, i.e. the ubiquitin-proteasome system and autophagy-lysosomal pathway, seem to be contributing to the final neurodegenerative process. Studies on the molecular mechanisms of nigral neuronal death in familial forms of PD will contribute further on the understanding of the pathogenesis of sporadic PD.

show abstract

The mystery of the lost and found right coronary artery

Agarwala

Kapoor

2010

Cathet Cardio Intervent

View full text Add to dashboard Cite

Most coronary artery anomalies are discovered only incidentally during coronary angiography. Recognition and identification of these anomalies especially during coronary intervention procedures are of importance because of their occasional association with symptoms due to atherosclerotic coronary disease. Anomalous origin of the right coronary artery (RCA) from the left anterior descending coronary artery (LAD) is one of the most uncommon coronary anomalies. We report an extremely interesting case of anomalous RCA from the LAD presenting as acute inferior ST elevation MI, with ostial total block of the RCA, precluding its visualization during coronary angiography. Interventional Cardiologists need to be aware of such anatomical variations, as occasionally, this can lead to a diagnostic dilemma, as in our case.

show abstract

Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier

Cited by 30 publications

References 15 publications

Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology

Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology

Progress in the pathogenesis and genetics of Parkinson's disease

The mystery of the lost and found right coronary artery

Contact Info

Product

Resources

About