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

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2013

Shan Jingli, Wen Bing, Zhu Jun, Lin Pengfei, Zheng Jinfan, Yan Chuanzhu

Abstract excerpt

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disorder characterized by neurodegeneration and iron accumulation in the brain. Classic and atypical PKAN are distinguished on the basis of age at onset and disease progression. PANK2, localized on chromosome20p13, is confirmed as the responsible gene. We report two Chinese siblings with atypical PKAN, who had a 26- and 24-year...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Pantothenate Kinase-Associated Neurodegeneration

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Siblings

Source

Identifiers

PMID: 22930366
DOI: 10.1007/s10072-012-1177-8

Genes

PANK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.PMID 22930366Read ↗

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

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

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

Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.Semantic proximity Read ↗

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

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

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

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

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

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