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

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.

Journal of child neurology - 1 Nov 2007

Kazek Beata, Jamroz Ewa, Gencik Martin, Jezela Stanek Aleksandra, Marszal Elzbieta, Wojaczynska-Stanek Katarzyna

Abstract excerpt

Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disorder with autosomal recessive inheritance. The major symptoms of PKAN include the onset before the age of 20 years, progressive pyramidal and extrapyramidal signs, retinitis pigmentosa, optic atrophy, dementia, and iron depositions in the globus pallidus. The authors present 3 patients with proven molecular diagnosis of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Arginine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to PANK2 gene

Share to Glycine

Share to Mutation

Share to Pantothenate Kinase-Associated Neurodegeneration

Share to Phosphotransferases (Alcohol Group Acceptor)

Source

Identifiers

PMID: 18006953
DOI: 10.1177/0883073807307092

Genes

PANK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.PMID 18006953Read ↗

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.Semantic proximity Read ↗

Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.Semantic proximity Read ↗

Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.Semantic proximity Read ↗

Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.Semantic proximity Read ↗

Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration.Semantic proximity Read ↗

Pantothenate kinase-associated neurodegeneration: novel mutations in the PANK2 gene in an Argentinean young woman.Semantic proximity Read ↗

Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family.Semantic proximity Read ↗

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.Semantic proximity Read ↗

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.Semantic proximity Read ↗

PANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family.Semantic proximity Read ↗

Atypical Pantothenate Kinase-Associated Neurodegeneration with Variable Phenotypes in an Egyptian FamilySemantic proximity Read ↗

Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family.Semantic proximity Read ↗

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