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

Autor: Alfredo Ramirez, Marcelo Miranda, Florian Harmuth, Malco Rossi, Olafur T. Magnusson, M. Leonor Bustamante, Thomas Klockgether, Marc Sturm, Peter Bauer
Rok vydání: 2020
Předmět:
Male
psychology [Parkinsonian Disorders]
physiopathology [Cognitive Dysfunction]
Kufor-Rakeb syndrome
Adolescent
Hereditary spastic paraplegia
psychology [Psychotic Disorders]
Parkinsonism
physiopathology [Ataxia]
Young Adult
physiopathology [Psychotic Disorders]
genetics [Spastic Paraplegia
Hereditary]
physiopathology [Spastic Paraplegia
Hereditary]
psychology [Spastic Paraplegia
Hereditary]
medicine
Humans
ddc:610
ATP13A2
Genetics
genetics [Proton-Translocating ATPases]
physiopathology [Muscle Spasticity]
Continuum (measurement)
business.industry
Intermediate phenotype
Siblings
Spastic paraplegia
SPG78
medicine.disease
Proton-Translocating ATPases
physiopathology [Ocular Motility Disorders]
Phenotype
Neurology
genetics [Parkinsonian Disorders]
Kufor Rakeb syndrome
physiopathology [Parkinsonian Disorders]
ATP13A2 protein
human
Mutation (genetic algorithm)
physiopathology [Motor Neuron Disease]
Female
psychology [Cognitive Dysfunction]
Neurology (clinical)
Geriatrics and Gerontology
business
Zdroj: Parkinsonism & related disorders 81, 45-47 (2020). doi:10.1016/j.parkreldis.2020.10.004
ISSN: 1353-8020
DOI: 10.1016/j.parkreldis.2020.10.004
Databáze: OpenAIRE
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