TY  - JOUR
AU  - Miranda, Marcelo
AU  - Harmuth, Florian
AU  - Bustamante, M Leonor
AU  - Rossi, Malco
AU  - Sturm, Marc
AU  - Magnusson, Ólafur Th
AU  - Bauer, Peter
AU  - Klockgether, Thomas
AU  - Ramirez, Alfredo
TI  - Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
JO  - Parkinsonism & related disorders
VL  - 81
SN  - 1353-8020
CY  - Amsterdam [u.a.]
PB  - Elsevier Science
M1  - DZNE-2022-00603
SP  - 45 - 47
PY  - 2020
KW  - Adolescent
KW  - Ataxia: physiopathology
KW  - Cognitive Dysfunction: physiopathology
KW  - Cognitive Dysfunction: psychology
KW  - Female
KW  - Humans
KW  - Male
KW  - Motor Neuron Disease: physiopathology
KW  - Muscle Spasticity: physiopathology
KW  - Ocular Motility Disorders: physiopathology
KW  - Parkinsonian Disorders: genetics
KW  - Parkinsonian Disorders: physiopathology
KW  - Parkinsonian Disorders: psychology
KW  - Phenotype
KW  - Proton-Translocating ATPases: genetics
KW  - Psychotic Disorders: physiopathology
KW  - Psychotic Disorders: psychology
KW  - Siblings
KW  - Spastic Paraplegia, Hereditary: genetics
KW  - Spastic Paraplegia, Hereditary: physiopathology
KW  - Spastic Paraplegia, Hereditary: psychology
KW  - Young Adult
KW  - ATP13A2 (Other)
KW  - Kufor-Rakeb syndrome (Other)
KW  - Parkinsonism (Other)
KW  - SPG78 (Other)
KW  - Spastic paraplegia (Other)
KW  - ATP13A2 protein, human (NLM Chemicals)
KW  - Proton-Translocating ATPases (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:33049588
DO  - DOI:10.1016/j.parkreldis.2020.10.004
UR  - https://pub.dzne.de/record/163926
ER  -