Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

Molecular genetics & genomic medicine - 1 Mar 2020

Estiar Mehrdad A, Leveille Etienne, Spiegelman Dan, Dupre Nicolas, Trempe Jean-François, Rouleau Guy A, Gan-Or Ziv

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness, with or without additional symptoms. Mutations in ATP13A2, known to cause Kufor-Rakeb syndrome (KRS), have been recently implicated in HSP. METHODS: Whole-exome sequencing was done in a Canada-wide HSP cohort. RESULTS: Three additional patients with homozygous ATP13A2 mutations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Catalytic Domain
Share to Enzyme Stability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Homozygote

Share to Mutation

Share to Paraplegia

Share to Phenotype

Share to Proton-Translocating ATPases

Source

Open in PubMed Open full text

Identifiers

PMID: 31944623
DOI: 10.1002/mgg3.1052
PMCID: PMC7057081

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.PMID 31944623Read ↗

A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.Semantic proximity Read ↗

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Semantic proximity Read ↗

Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations.Semantic proximity Read ↗

New genetic causes for complex hereditary spastic paraplegia.Semantic proximity Read ↗

Clinical and genetic study of hereditary spastic paraplegia in CanadaSemantic proximity Read ↗

The emerging genetic diversity of hereditary spastic paraplegia in Korean patients.Semantic proximity Read ↗

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Semantic proximity Read ↗

TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.Semantic proximity Read ↗

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.Semantic proximity Read ↗

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Semantic proximity Read ↗

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional StudySemantic proximity Read ↗

Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive OverviewSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.