showing 5 related works from this author
Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease.
2008
Myocardial (123)Metaiodobenzylguanidine (MIBG) enables the assessment of postganglionic sympathetic cardiac innervation. MIBG uptake is decreased in nearly all patients with Parkinson's disease (PD). Our objective was to evaluate MIBG uptake in patients with genetic PD. We investigated MIBG uptake in 14 patients with PD associated with mutations in different genes (Parkin, DJ-1, PINK], and leucine-rich repeat kinase 2 -LRRK2), in 15 patients with idiopathic PD, and 10 control subjects. The myocardial MIGB uptake was preserved in 3 of the 4 Parkin-associated Parkinsonisms, in I of the 2 patients with DJ-1 mutations, in 1 of the 2 brothers with PINK] mutations, in 3 of the 6 unrelated patient…
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB
2020
Abstract DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.
Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy
2020
Recently, the LRP10 gene has been associated with Parkinson's disease (PD), Parkinson's disease with dementia (PDD), and dementia with Lewy bodies (DLB). The aim of the present study was to evaluate the presence of mutations of the LRP10 gene in patients with PD or DLB from Southern Italy. Sequencing analysis revealed only 2 missense and 3 synonymous variants in patients and control subjects and a rare variant p.L622F in a PD case. These results suggest that LRP10 mutations are not a frequent cause of PD and DLB in Southern Italy.
Lack of association between ubiquitin carboxy-terminal hydrolase L1 gene polymorphism and PD.
2001
In 1998, an IL93Met mutation in the ubiquitin carboxy-terminal hydrolase L1 ( UCH-L1 ) gene was identified in a German family affected by PD.1 Recently, others2-4⇓⇓ found that the S18Y polymorphism in exon 3 of UCH-L1 is associated with a low risk of PD. To verify these interesting results, we decided to design a case-control study on the S18Y polymorphism of the UCH-L1 gene using sporadic PD cases. In the meantime, as we were analyzing our samples, a case-control study5 on 142 patients with PD and 142 age- and sex-matched control subjects did not confirm the protective effect found by Maraganore et al.2 In view of these conflicting findings, we reasoned that our contribution may have some …
The parkin gene is not a major susceptibility locus for typical late-onset Parkinson's disease
2001
We investigated the parkin gene in 118 patients with typical Parkinson's disease (PD), i. e. in patients who had an onset of PD after the age of 45 years. The study group included 95 subjects with sporadic PD and 23 subjects from 18 families with autosomal recessive PD. No pathogenetic mutations in the parkin gene were detected either in familial or in sporadic patients. Our findings indicate that the parkin gene is not involved in the pathogenesis of classic late-onset PD.