LIVIVO - Search results -

Search results

Result 1 - 10 of total 15

Search options

Article ; Online: Suicide attempt in a dopamine agonist withdrawal syndrome in Parkinson's disease.

Espindola, Melisa / Rojas, Natalia González / Vaisentein, Giselle / Da Prat, Gustavo / Cesarini, Martin / Etcheverry, Jose Luis / Gatto, Emilia M

Parkinsonism & related disorders

2024 Volume 121, Page(s) 106017

Abstract: Dopamine agonist withdrawal syndrome (DAWS) results from the reduction or suspension of dopamine agonist medications; it encompasses mainly psychiatric symptoms, including suicidal behaviors. In patients with Parkinson's disease (PD), the impact of DAWS ... ...

Abstract	Dopamine agonist withdrawal syndrome (DAWS) results from the reduction or suspension of dopamine agonist medications; it encompasses mainly psychiatric symptoms, including suicidal behaviors. In patients with Parkinson's disease (PD), the impact of DAWS can be significant in terms of distress and disability; however, we must take this syndrome into account as a threatening condition because suicidal behaviors could be developing in the context of DAWS. Here we present a brief case of DAWS affecting a young man with PD, whom abruptly discontinued DA treatment and developed psychiatric symptoms within two weeks which led to a suicidal attempt.
MeSH term(s)	Male ; Humans ; Dopamine Agonists/adverse effects ; Parkinson Disease/complications ; Parkinson Disease/drug therapy ; Suicide, Attempted ; Dopamine Agents/therapeutic use ; Substance Withdrawal Syndrome/etiology ; Substance Withdrawal Syndrome/diagnosis ; Disruptive, Impulse Control, and Conduct Disorders/complications
Chemical Substances	Dopamine Agonists ; Dopamine Agents
Language	English
Publishing date	2024-02-12
Publishing country	England
Document type	Letter
ZDB-ID	1311489-x
ISSN	1873-5126 ; 1353-8020
ISSN (online)	1873-5126
ISSN	1353-8020
DOI	10.1016/j.parkreldis.2024.106017
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 4553: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 420: Show issues

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾

Article ; Online: Reader response: Clinical manifestations of homozygote allele carriers in Huntington disease.

Da Prat, Gustavo / Etcheverry, Jose Luis / Cesarini, Martin / Gatto, Emilia

Neurology

2020 Volume 94, Issue 16, Page(s) 723

MeSH term(s)	Alleles ; Case-Control Studies ; Heterozygote ; Homozygote ; Humans ; Huntington Disease/genetics
Language	English
Publishing date	2020-04-20
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000009307
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui II Zs.153: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MG 18: Show issues
Zs.MO 374: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Huntington disease: Advances in the understanding of its mechanisms.

Gatto, Emilia M / Rojas, Natalia González / Persi, Gabriel / Etcheverry, José Luis / Cesarini, Martín Emiliano / Perandones, Claudia

Clinical parkinsonism & related disorders

2020 Volume 3, Page(s) 100056

Abstract: Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4. Despite its well-defined genetic origin, the molecular ... ...

Abstract	Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease are unclear and complex. Here, we review some of the currently known functions of the wild-type huntingtin protein and discuss the deleterious effects that arise from the expansion of the CAG repeats, which are translated into an abnormally long polyglutamine tract. Also, we present a modern view on the molecular biology of HD as a representative of the group of polyglutamine diseases, with an emphasis on conformational changes of mutant huntingtin, disturbances in its cellular processing, and proteolytic stress in degenerating neurons. The main pathogenetic mechanisms of neurodegeneration in HD are discussed in detail, such as autophagy, impaired mitochondrial biogenesis, lysosomal dysfunction, organelle and protein transport, inflammation, oxidative stress, and transcription factor modulation. However, other unraveling mechanisms are still unknown. This practical and brief review summarizes some of the currently known functions of the wild-type huntingtin protein and the recent findings related to the mechanisms involved in HD pathogenesis.
Language	English
Publishing date	2020-05-06
Publishing country	England
Document type	Journal Article ; Review
ISSN	2590-1125
ISSN (online)	2590-1125
DOI	10.1016/j.prdoa.2020.100056
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article: Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.

Gatto, Emilia M / Da Prat, Gustavo / Etcheverry, Jose Luis / Drelichman, Guillermo / Cesarini, Martin

Brain sciences

2019 Volume 9, Issue 2

Abstract: In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson's disease (PD) or frontotemporal dementia. Epidemiological studies helped ... ...

Abstract	In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson's disease (PD) or frontotemporal dementia. Epidemiological studies helped promote research in the field that continues to improve our understanding of the link between mutations in the glucocerebrosidase (GBA) gene and PD. We conducted a review of this link, highlighting the association in GBA mutation carriers and in Gaucher disease type 1 patients (GD type 1). A comprehensive review of the literature from January 2008 to December 2018 was undertaken. Relevance findings include: (1) There is a bidirectional interaction between GBA and α- synuclein in protein homeostasis regulatory pathways involving the clearance of aggregated proteins. (2) The link between GBA deficiency and PD appears not to be restricted to α⁻synuclein aggregates but also involves Parkin and PINK1 mutations. (3) Other factors help explain this association, including early and later endosomes and the lysosomal-associated membrane protein 2A (LAMP-2A) involved in the chaperone-mediated autophagy (CMA). (4) The best knowledge allows researchers to explore new therapeutic pathways alongside substrate reduction or enzyme replacement therapies.
Language	English
Publishing date	2019-02-01
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2651993-8
ISSN	2076-3425
ISSN	2076-3425
DOI	10.3390/brainsci9020030
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Neurodegenerative diseases and cancer: sharing common mechanisms in complex interactions.

Rojas, Natalia González / Cesarini, Martin / Etcheverry, José Luis / Prat, Gustavo Andrés Da / Arciuch, Valeria Antico / Gatto, Emilia Mabel

Journal of integrative neuroscience

2020 Volume 19, Issue 1, Page(s) 187–199

Abstract: Several epidemiological studies support low cancer rates in patients with neurodegenerative disorders, including Parkinson's disease, Huntington's disease, and Alzheimer's disease. Different mechanisms were raised as possible causes, from mutated tumor ... ...

Abstract	Several epidemiological studies support low cancer rates in patients with neurodegenerative disorders, including Parkinson's disease, Huntington's disease, and Alzheimer's disease. Different mechanisms were raised as possible causes, from mutated tumor suppressor genes (PARKIN, PINK1) to small interfering RNA based on the CAG trinucleotide repeat expansions located in introns or untranslated regions. However, as every rule has an exception, some tumors have an increased incidence in these neurodegenerative diseases such as breast and skin cancer (melanoma). This mini-review aims to establish the epidemiology between these neurodegenerative disorders and cancer to determine the possible mechanisms involved and therefore set eventual therapeutic applications. According to our findings, we conclude the presence of an inverse relationship among most cancers and the aforementioned neurodegenerative disorders. However, this concept needs to be considered cautiously considering specific genetic and extra-genetic linkage factors for particular tumors.
MeSH term(s)	Animals ; Humans ; Neoplasms/complications ; Neoplasms/epidemiology ; Neoplasms/metabolism ; Neurodegenerative Diseases/complications ; Neurodegenerative Diseases/epidemiology ; Neurodegenerative Diseases/metabolism ; Signal Transduction
Language	English
Publishing date	2020-04-07
Publishing country	England
Document type	Journal Article
ZDB-ID	2136427-8
ISSN	0219-6352
ISSN	0219-6352
DOI	10.31083/j.jin.2020.01.3
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 6117: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.

Rossi, Malco / Cesarini, Martin / Gatto, Emilia M / Cammarota, Angel / Merello, Marcelo

Tremor and other hyperkinetic movements (New York, N.Y.)

2018 Volume 8, Page(s) 538

Abstract: Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms.: Case report: An adult patient with cerebrotendinous ... ...

Abstract	Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms. Case report: An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts. Discussion: The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts. Early diagnosis is critical to the institution of specific treatment with chenodeoxycholic acid.
MeSH term(s)	Adult ; Ataxia/diagnosis ; Ataxia/drug therapy ; Ataxia/etiology ; Diagnosis, Differential ; Female ; Humans ; Tremor/diagnosis ; Tremor/drug therapy ; Tremor/etiology ; Xanthomatosis, Cerebrotendinous/complications ; Xanthomatosis, Cerebrotendinous/diagnosis ; Xanthomatosis, Cerebrotendinous/drug therapy
Language	English
Publishing date	2018-05-17
Publishing country	England
Document type	Case Reports ; Journal Article ; Video-Audio Media
ZDB-ID	2674453-3
ISSN	2160-8288 ; 2160-8288
ISSN (online)	2160-8288
ISSN	2160-8288
DOI	10.7916/D8X07Q2N
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Skin Allergy Associated to Different Formulations of Levodopa.

Da Prat, Gustavo / Cesarini, Martin / Etcheverry, Jose Luis / Rojas, Natalia González / Gatto, Emilia M

Movement disorders clinical practice

2018 Volume 5, Issue 6, Page(s) 657–658

Language	English
Publishing date	2018-11-01
Publishing country	United States
Document type	Journal Article
ISSN	2330-1619
ISSN (online)	2330-1619
DOI	10.1002/mdc3.12669
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- Full text online
- Order with fees

Article ; Online: Late Onset Huntington Disease: Phenotypic and Genotypic Characteristics of 10 Cases in Argentina.

Rojas, Natalia González / Ziliani, Javier Enrique / Cesarini, Martin Emilano / Etcheverry, José Luis / Da Prat, Gustavo Andrés / McCusker, Elizabeth / Gatto, Emilia Mabel

Journal of Huntington's disease

2019 Volume 8, Issue 2, Page(s) 195–198

Abstract: Background: Huntington's disease (HD) is a neurodegenerative disorder that includes motor, psychiatric and cognitive manifestations with typical onset of symptoms is in the forties. A percentage of patients (4.4% - 11.5%) may be exceptions to this and ... ...

Abstract	Background: Huntington's disease (HD) is a neurodegenerative disorder that includes motor, psychiatric and cognitive manifestations with typical onset of symptoms is in the forties. A percentage of patients (4.4% - 11.5%) may be exceptions to this and manifest symptoms later (>60 years old). Diagnosis of Late onset HD (LoHD) can be a challenge, due to the low suspicion of the disease at this age. Objective: To review the genotype and phenotype of LoHD in an Argentinian cohort. Methods: We reviewed the medical records and genetic testing of a total of 95 individuals with clinical and molecular diagnosis of Huntington's disease, based on 2 institution's registry. Results: Among our HD cohort, 10 patients (10.52%) had LoHD, with variable results regarding family history. The average of repetitions of the expanded allele was 40 (range 38-44). All cases had mild motor symptoms at onset. Conclusions: Late onset HD can be a diagnostic challenge, due to its slow progression, unawareness of manifestations among patients and in many cases, mild symptomatology that does not warrant medical attention.
MeSH term(s)	Aged ; Aged, 80 and over ; Argentina ; Female ; Genotype ; Humans ; Huntington Disease/complications ; Huntington Disease/genetics ; Huntington Disease/physiopathology ; Male ; Middle Aged ; Phenotype
Language	English
Publishing date	2019-01-30
Publishing country	Netherlands
Document type	Journal Article
ISSN	1879-6400
ISSN (online)	1879-6400
DOI	10.3233/JHD-180330
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Worldwide barriers to genetic testing for movement disorders.

Gatto, Emilia M / Walker, Ruth H / Gonzalez, Claudio / Cesarini, Martin / Cossu, Giovanni / Stephen, Christopher D / Balint, Bettina / Rodríguez-Violante, Mayela / Jankovic, Joseph / Morgante, Francesca / Jinnah, Hyder A

European journal of neurology

2021 Volume 28, Issue 6, Page(s) 1901–1909

Abstract: Background and purpose: Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to ... ...

Abstract	Background and purpose: Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization. Methods: The Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members. Results: Survey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe. Conclusions: This survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.
MeSH term(s)	Asia ; Europe ; Genetic Testing ; Humans ; Middle East ; Movement Disorders/genetics
Language	English
Publishing date	2021-04-09
Publishing country	England
Document type	Journal Article
ZDB-ID	1280785-0
ISSN	1468-1331 ; 1351-5101 ; 1471-0552
ISSN (online)	1468-1331
ISSN	1351-5101 ; 1471-0552
DOI	10.1111/ene.14826
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 4738: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 592: Show issues

Order via subito

Details ▾

Article ; Online: Prodromal Clinical Markers of Parkinson disease in Gaucher Disease Individuals.

Gatto, Emilia M / Etcheverry, Jose Luis / Sanguinetti, Ana / Cesarini, Martin / Fernandez Escobar, Nicolas / Drelichman, Guillermo

European neurology

2016 Volume 76, Issue 1-2, Page(s) 19–21

Abstract: Heterozygous mutations in the glucocerebrosidase (GBA) gene have been reported as a common risk factor for the development of Parkinson's disease (PD) in Gaucher disease (GD) patients and in heterozygous GBA mutation positive carriers. In this study, we ... ...

Abstract	Heterozygous mutations in the glucocerebrosidase (GBA) gene have been reported as a common risk factor for the development of Parkinson's disease (PD) in Gaucher disease (GD) patients and in heterozygous GBA mutation positive carriers. In this study, we analyzed the occurrence of prodromal markers of PD in an Argentinean cohort with type 1 GD. After signed informed consent, we evaluated 26 patients with type 1 GD under enzymatic replacement therapy from a cohort of the Hospital Ricardo Gutierrez GD Study Group in Buenos Aires City, Argentina. We performed an extensive neurological examination, including cognitive assessment by Montreal Cognitive Assessment (MoCA) and a questionnaire performed ad hoc, to identify non-motor PD symptoms. Parasomnias were reported by 7 patients (26.92%), rapid eye movement behavior disorders in 2 (7.69%), constipation in 2 (7.69%), hyposmia in 1 (3.84%), tremor in 1 (3.84%), and depression in 3 cases (11.53%). MoCA assessment was abnormal in 44.44% of patients. No patient fulfilled PD diagnostic criteria (Queen Square Brain Bank criteria). The identification of prodromal markers of PD in type 1 GD suggests that this population represents a very interesting cohort for identifying potential biomarkers and neuroprotective therapies for PD.
MeSH term(s)	Adolescent ; Adult ; Biomarkers ; Child ; Enzyme Replacement Therapy ; Female ; Gaucher Disease/complications ; Gaucher Disease/drug therapy ; Gaucher Disease/genetics ; Glucosylceramidase/genetics ; Heterozygote ; Humans ; Male ; Middle Aged ; Mutation ; Parkinson Disease/complications ; Parkinson Disease/diagnosis ; Parkinson Disease/genetics ; Risk Factors ; Young Adult
Chemical Substances	Biomarkers ; Glucosylceramidase (EC 3.2.1.45)
Language	English
Publishing date	2016
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	209426-5
ISSN	1421-9913 ; 0014-3022
ISSN (online)	1421-9913
ISSN	0014-3022
DOI	10.1159/000447510
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 575: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

To top

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito