1.
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex
Annesi, Grazia; Savettieri, Giovanni; Pugliese, Pierfrancesco ...
Annals of neurology,
November 2005, Letnik:
58, Številka:
5
Journal Article
DJ‐1 gene mutations have been found to cause early‐onset Parkinson's disease. We report a family from southern Italy with three brothers affected by early‐onset parkinsonism, dementia, and ...
amyotrophic lateral sclerosis. Molecular analysis of the DJ‐1 gene in two living patients showed a novel homozygous mutation in exon 7 (E163K) and a new homozygous mutation (g.168_185dup) in the promoter region of the gene. Both mutations cosegregated with the disease and were detected in a heterozygous state in the patients' mother and their healthy siblings. Our findings expand the spectrum of clinical presentations associated with mutations in DJ‐1 gene. Ann Neurol 2005;58:803–807
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2.
Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the Parkin gene
Capecci, Marianna; Passamonti, Luca; Annesi, Ferdinanda ...
Movement disorders,
December 2004, Letnik:
19, Številka:
12
Journal Article
Chronic subthalamic nucleus deep brain stimulation (STN‐DBS) is an efficacious treatment for idiopathic Parkinson's disease (PD) that cannot be further improved by medical therapy. We present a case ...
of an individual with juvenile parkinsonism caused by homozygous deletion of exon 3 in the parkin gene with disabling long‐term side‐effects from levodopa who underwent bilateral STN neuromodulation. Parkin‐linked parkinsonism may show clinical features different from sporadic PD, yet it shares levodopa responsiveness. Because levodopa responsiveness is a predictor of STN‐DBS efficacy, we argued that this kind of surgical approach might be efficacious in hereditary parkin‐linked juvenile parkinsonism. We evaluated clinical and functional assessment before and 12 months after surgery. The results showed that the Unified Parkinson Disease Rating Scales Motor score improved by 84% in our patient, the levodopa equivalent daily dose medication (LEDD) was reduced by 66%, and, finally, disabling and severe dyskinesias disappeared. © 2004 Movement Disorder Society
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3.
Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease
Quattrone, Aldo; Bagnato, Antonio; Annesi, Grazia ...
Movement disorders,
01/2008, Letnik:
23, Številka:
1
Journal Article
Myocardial 123Metaiodobenzylguanidine (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, PINK1, 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 1 of the 2 patients with DJ‐1 mutations, in 1 of the 2 brothers with PINK1 mutations, in 3 of the 6 unrelated patients with Gly2019Ser mutation in the LRRK2 gene, whereas it was impaired in all patients with idiopathic PD. MIBG was preserved in all control subjects. Our study shows that myocardial MIGB uptake was normal in 8 of 14 patients with genetic PD, suggesting that cardiac sympathetic denervation occurs less frequently in genetic PD than in idiopathic PD. Our findings also demonstrate that MIGB uptake has a heterogeneous pattern in genetic PD, because it was differently impaired in patients with different mutations in the same gene or with the same gene mutation. © 2007 Movement Disorder Society
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4.
Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease
Savettieri, Giovanni; Annesi, Grazia; Civitelli, Donatella ...
Parkinsonism & related disorders,
08/2008, Letnik:
14, Številka:
6
Journal Article
Abstract Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was ...
identified in two brothers with early-onset Parkinson disease (EOPD) from a Sicilian consanguineous family. Of note, while one of the two patients developed mental deterioration and psychiatric problems, the other showed no cognitive decline. The present study supports the view that PINK1 is a pathogenic gene in some Italian families with EOPD and contributes to define the PINK1 -associated phenotype.
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5.
Myocardial 123 metaiodobenzylguanidine uptake in genetic Parkinson's disease
Quattrone, Aldo; Bagnato, Antonio; Annesi, Grazia ...
Movement disorders,
01/2008, Letnik:
23, Številka:
1
Journal Article
Abstract
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
,
PINK1
, 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 1 of the 2 patients with
DJ‐1
mutations, in 1 of the 2 brothers with
PINK1
mutations, in 3 of the 6 unrelated patients with Gly2019Ser mutation in the
LRRK2
gene, whereas it was impaired in all patients with idiopathic PD. MIBG was preserved in all control subjects. Our study shows that myocardial MIGB uptake was normal in 8 of 14 patients with genetic PD, suggesting that cardiac sympathetic denervation occurs less frequently in genetic PD than in idiopathic PD. Our findings also demonstrate that MIGB uptake has a heterogeneous pattern in genetic PD, because it was differently impaired in patients with different mutations in the same gene or with the same gene mutation. © 2007 Movement Disorder Society
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6.
Erratum: Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the Parkin gene. Mov Disord 2004;19(12):1451-1453
Capecci, Marianna; Passamonti, Luca; Annesi, Ferdinanda ...
Movement disorders,
12/2004, Letnik:
19, Številka:
12
Journal Article
The original article to which this Erratum refers was published in Movement Disorders, Volume 19, Issue 12, pages 1451–1453.
In the brief report by Capecci and colleagues that appears in this issue ...
of Movement Disorders, the authors mistakenly refer to the patient's 30‐year‐old daughter, who suffers from parkinsonism. This individual is in fact the sister of the described patient. © 2004 Movement Disorder Society
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7.
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