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Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia

descriptionPublicationkeyboard_double_arrow_right Article 01 Dec 2020 English Publisher:Elsevier BVJournal:Parkinsonism & Related Disorders, volume 81, pages 45-47 (issn: 1353-8020, Copyright policy )Funded by:EC | NEUROMICS
Authors: Miranda, Marcelo; Harmut, Florian; Bustamante Calderón, María Leonor; Rossi, Malco; Sturm, Marc; Magnusson, Olafur Th; Bauer, Peter; +2 Authors

doi: 10.1016/j.parkreldis.2020.10.004

handle: 11336/211363

Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia

Abstract

Fil: Rossi, Malco Damian. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia. Instituto de Neurociencias - Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Neurociencias; Argentina

ATP13A2 mutations have been implicated in juvenile parkinsonism (PARK9) and neuronal ceroid lipofuscinosis [1]. Recently, association with complicated hereditary spastic paraplegia (HSP) and an amyotrophic lateral sclerosis-like phenotype have been reported..

Fil: Bustamante, M. Leonor. Clinica Las Condes; Chile. Fundación Diagnosis; Chile. Universidad de Chile; Chile

Fil: Miranda, Marcelo Fabian. Clinica Las Condes; Chile. Fundación Diagnosis; Chile

Fil: Harmuth, Florian. Eberhard Karls Universität Tübingen; Alemania

Fil: Bauer, Peter. Eberhard Karls Universität Tübingen; Alemania

Fil: Sturm, Marc. Eberhard Karls Universität Tübingen; Alemania

Fil: Magnusson, Ólafur Th. Decode Genetics; Islandia

Fil: Klockgether, Thomas. Universitat Bonn; Alemania

Fil: Ramirez, Alfredo. Universitat Bonn; Alemania

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Keywords

Male, psychology [Parkinsonian Disorders], physiopathology [Cognitive Dysfunction], Kufor-Rakeb syndrome, Adolescent, psychology [Psychotic Disorders], Parkinsonism, physiopathology [Ataxia], Young Adult, physiopathology [Psychotic Disorders], genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], psychology [Spastic Paraplegia, Hereditary], KUFOR-RAKEB SYNDROME, https://purl.org/becyt/ford/3.2, Humans, https://purl.org/becyt/ford/3, ATP13A2, genetics [Proton-Translocating ATPases], physiopathology [Muscle Spasticity], Siblings, Spastic paraplegia, SPG78, Kufor-rakeb syndrome, Proton-Translocating ATPases, physiopathology [Ocular Motility Disorders], Phenotype, genetics [Parkinsonian Disorders], physiopathology [Parkinsonian Disorders], ATP13A2 protein, human, physiopathology [Motor Neuron Disease], Female, psychology [Cognitive Dysfunction], PARKINSONISM, ddc: ddc:610

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
6
Top 10%
Average
Average
Green
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