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

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1linked to the SCA2 locus

1 Aug 1994

Abstract excerpt

Autosomal dominant cerebellar ataxias (ADCA) type 1 are a clinically and genetically heterogeneous group of neurodegenerative disorders. We report a large Tunisian ADCA type 1 family in which 17 patients (mean age at onset +/- SD = 35.6 +/- 15.3 years) were examined. There was mean anticipation of 10.3 +/- 15.4 years in this family; anticipation was greater in paternal (28 +/- 8.2 years) than in maternal (2.7 +/-...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Glycogen Storage Diseases and Myoclonus
Share to Mitochondrial Function and Pathology

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

Source

Identifiers

PMID: 8058142
DOI: 10.1212/wnl.44.8.1423

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

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1linked to the SCA2 locusPMID 8058142Read ↗

Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.Semantic proximity Read ↗

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Semantic proximity Read ↗

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.Semantic proximity Read ↗

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families.Semantic proximity Read ↗

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.Semantic proximity Read ↗

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.Semantic proximity Read ↗

Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes.Semantic proximity Read ↗

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.Semantic proximity Read ↗

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.Semantic proximity Read ↗

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.Semantic proximity Read ↗

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.Semantic proximity Read ↗

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.Semantic proximity Read ↗

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