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

Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family.

Journal of human genetics - 1 Apr 2011

Sun Hao, Satake Wataru, Zhang Changjun, Nagai Yoshitaka, Tian Youyong, Fu Shouzhi, Yu Jiankun, Qian Yaping, Qian Yuan, Chu Jiayou, Toda Tatsushi

Abstract excerpt

Parkinson's disease is a degenerative central nervous system disorder that often impairs motor skills, speech and other functions. We discovered a large Chinese family showing primarily parkinsonism symptoms with autosomal dominant inheritance. Six affected individuals in the family showed typical parkinsonism symptoms, including pill-rolling tremor. Two other affected individuals showed cerebellar ataxia...

Read the complete abstract on PubMed

Topics

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

Share to Ataxins
Share to Cerebellum

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 12

Share to Chromosomes, Human, Pair 5

Share to DNA Repeat Expansion

Share to Genes, Dominant

Share to Parkinson Disease

Share to Spinocerebellar Ataxias

Source

Identifiers

PMID: 21307863
DOI: 10.1038/jhg.2011.14

Genes

ATXN2

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family.PMID 21307863Read ↗

Spinocerebellar ataxia type 2 with parkinsonism in ethnic ChineseSemantic proximity Read ↗

Linkage analysis and whole-exome sequencing exclude extra mutations responsible for the parkinsonian phenotype of spinocerebellar ataxia-2.Semantic proximity Read ↗

The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.Semantic proximity Read ↗

Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson’s disease in Chinese populationSemantic proximity Read ↗

Profile of families with parkinsonism‐predominant spinocerebellar ataxia type 2 (SCA2)Semantic proximity Read ↗

Spinocerebellar ataxia type 2 in China: molecular analysis and genotype-phenotype correlation in nine families.Semantic proximity Read ↗

Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases.Semantic proximity Read ↗

Spinocerebellar Ataxia Type 28 in a Chinese Pedigree: A Case Report and Literature ReviewSemantic proximity Read ↗

PARK2 mutations and clinical features in a Chinese population with early-onset Parkinson's disease.Semantic proximity Read ↗

Parkinsonism in Spinocerebellar AtaxiaSemantic proximity Read ↗

Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in ChinaSemantic proximity Read ↗

PSP-Phenotype in SCA8: Case Report and Systemic Review.Semantic proximity Read ↗

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