Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia-Reference-Cited by-同舟云学术

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

Published:2020-12 Issue: Volume:81 Page:45-47
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Miranda Marcelo,Harmuth Florian,Bustamante M. Leonor,Rossi Malco,Sturm Marc,Magnusson Ólafur Th,Bauer Peter,Klockgether Thomas,Ramirez Alfredo

Funder

Seventh Framework Programme

FP7

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference6 articles.

1. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase;Ramirez;Nat. Genet.,2006

2. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78);Estrada-Cuzcano;Brain,2017

3. Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion;Spataro;Hum. Genom.,2019

4. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia;Minnerop;Brain,2017

5. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia;Ozes;Clin. Genet.,2017

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1. Frequency of Hereditary and GBA1‐Related Parkinsonism in Latin America: A Systematic Review and Meta‐Analysis;Movement Disorders;2023-11-03

2. Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview;Frontiers in Neurology;2022-08-12

3. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update;Movement Disorders;2022-04-28

4. A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia;Parkinsonism & Related Disorders;2021-05

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