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

Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.

Current opinion in pediatrics - 1 Dec 2003

Hayflick Susan J

Abstract excerpt

PURPOSE OF REVIEW: After the recent discovery of the major genetic defect in neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome), this heterogeneous group of disorders can now be differentiated by clinical, radiographic, and molecular features. RECENT FINDINGS: Disease caused by mutations in the gene encoding pantothenate kinase 2 (PANK2) is characterized by dystonia and...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to PANK2 gene
Share to Iron

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pantothenate Kinase-Associated Neurodegeneration

Share to Phosphotransferases (Alcohol Group Acceptor)

Source

Identifiers

PMID: 14631201
DOI: 10.1097/00008480-200312000-00005

Genes

PANK2

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

Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.PMID 14631201Read ↗

Neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

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

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

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.Semantic proximity Read ↗

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.Semantic proximity Read ↗

Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.Semantic proximity Read ↗

Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).Semantic proximity Read ↗

Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).Semantic proximity Read ↗

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

Progressive dystonia in a 12-year-old boy.Semantic proximity Read ↗

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.Semantic proximity Read ↗

Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.Semantic proximity Read ↗

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