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

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

Pediatric radiology - 1 Aug 2006

Zolkipli Zarazuela, Dahmoush Hisham, Saunders Dawn E, Chong W K Kling, Surtees Robert

Abstract excerpt

It has been postulated that all patients with pantothenate kinase 2 (PANK2) mutations causing pantothenate-kinase-associated neurodegeneration (PKAN) are associated with the 'eye-of-the-tiger' sign on MRI. We report a pair of siblings who presented with dystonia and who have been found to be homozygous for 104C>A, S35X mutation, confirming the diagnosis of PKAN. They do not have the typical iron deposition in the...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Dystonia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Globus Pallidus

Share to Magnetic Resonance Imaging

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Siblings

Share to Substantia Nigra

Source

Identifiers

PMID: 16758184
DOI: 10.1007/s00247-006-0205-3

Genes

PANK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.PMID 16758184Read ↗

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

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

Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.Semantic proximity Read ↗

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

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

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

Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.Semantic proximity Read ↗

Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.Semantic proximity Read ↗

Idiopathic basal ganglia calcifications: an atypical presentation of PKAN.Semantic proximity Read ↗

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

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