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

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients.

American journal of medical genetics - 8 Jul 2002

Maruyama Hirofumi, Izumi Yuishin, Morino Hiroyuki, Oda Masaya, Toji Hiromasa, Nakamura Shigenobu, Kawakami Hideshi

Abstract excerpt

Expansions of trinucleotide repeats have been discovered in spinocerebellar ataxia (SCA) types 1, 2, 6, 7, 12, and 17, Machado-Joseph disease (MJD/SCA3), and dentatorubropallidoluysian atrophy (DRPLA). However, the frequency of familial SCA in Japan remains unclear. The number of trinucleotide repeats was determined for 1,286 patients. Three hundred and thirty families (523 cases) were autosomal dominant group...

Read the complete abstract on PubMed

Topics

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

Share to Ataxin-1
Share to Ataxin-3

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

Share to Ataxin-7

Share to Ataxins

Share to Calcium Channels

Share to RNA, Untranslated

Share to Spinocerebellar Ataxias

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 12116198
DOI: 10.1002/ajmg.10514

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

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients.PMID 12116198Read ↗

A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan.Semantic proximity Read ↗

A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.Semantic proximity Read ↗

Spinocerebellar ataxias in Asia: Prevalence, phenotypes and management.Semantic proximity Read ↗

Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan.Semantic proximity Read ↗

Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families.Semantic proximity Read ↗

[Overview of Hereditary Spinocerebellar Ataxias in Japan].Semantic proximity Read ↗

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

The hereditary spinocerebellar ataxias in Japan.Semantic proximity Read ↗

High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan.Semantic proximity Read ↗

Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.Semantic proximity Read ↗

Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.Semantic proximity Read ↗

Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.Semantic proximity Read ↗

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