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Nigral ATP13A2 depletion induces Parkinson's disease-related neurodegeneration in a pilot study in non-human primates.
NPJ Parkinsons Dis
August 2024
Univ. Bordeaux, CNRS, IMN, Bordeaux, France.
Lysosomal impairment is strongly implicated in Parkinson's disease (PD). Among the several PD-linked genes, the ATP13A2 gene, associated with the PARK9 locus, encodes a transmembrane lysosomal P5-type ATPase. Mutations in the ATP13A2 gene were primarily identified as the cause of Kufor-Rakeb syndrome (KRS), a juvenile-onset form of PD.
View Article and Find Full Text PDFAdult-onset deletion of ATP13A2 in mice induces progressive nigrostriatal pathway dopaminergic degeneration and lysosomal abnormalities.
NPJ Parkinsons Dis
July 2024
Department of Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA.
Although most cases of Parkinson's disease (PD) are sporadic, mutations in over 20 genes are known to cause heritable forms of the disease. Recessive loss-of-function mutations in ATP13A2, a lysosomal transmembrane P5-type ATPase and polyamine exporter, can cause early-onset familial PD. Familial ATP13A2 mutations are also linked to related neurodegenerative diseases, including Kufor-Rakeb syndrome, hereditary spastic paraplegias, neuronal ceroid lipofuscinosis, and amyotrophic lateral sclerosis.
View Article and Find Full Text PDFKufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.
Neurogenetics
October 2024
Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, B-3000, Belgium.
Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-Rakeb syndrome. In addition to motor symptoms, a variety of other neurological and psychiatric symptoms may occur in affected individuals, including supranuclear gaze palsy and cognitive decline. Although psychotic symptoms are often reported, response to antipsychotic therapy is not well described in previous case reports/series.
View Article and Find Full Text PDFEstimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.
Mov Disord Clin Pract
January 2024
Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.
Article Synopsis
- - Neurodegeneration with Brain Iron Accumulation (NBIA) is a rare hereditary disease, and this study aimed to assess how long patients can maintain mobility and survive, analyzing data from 122 patients over 11 years.
- - The findings highlighted significant survival and ambulation probabilities among different subtypes of NBIA, with Kufor Rakeb Syndrome (KRS) showing the best outcomes, while classical PKAN and MPAN presented similar challenges in mobility loss over time.
- - Spasticity was identified as the most critical factor associated with increased mortality, indicating that managing this symptom could potentially improve patient outcomes in NBIA.
A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.
Neurol Sci
April 2024
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, Zhejiang, China.
Background: ATP13A2 is a monogenic causative gene of Parkinson's disease, whose biallelic mutations can result in Kufor-Rakeb syndrome. Biallelic mutations in ATP13A2 have also been reported in pure or complicated hereditary spastic paraplegia (HSP). Here, we report clinical, neuroimaging, and genetic findings from a patient with a novel homozygous mutation in ATP13A2 presenting with HSP plus parkinsonism.
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