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

Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian family.

Italian journal of neurological sciences - 1 Feb 1998

Rizzi R, Carelli V, Monari L, Mochi M, Liguori R, Sensi M, Cocozza S, Filla A, Montagna P

Abstract excerpt

This study aimed to determine if cerebellar ataxia, hypogonadism and chorioretinopathy (AHCR) is associated with mutations in mitochondrial DNA or in genes responsible for spinocerebellar ataxias (SCA1, SCA2, SCA3 and Friedreich's ataxia). Two brothers with cerebellar ataxia, hypogonadism and chorioretinopathy and their unaffected parents underwent molecular analysis for duplications and deletions in...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Cerebellar Ataxia
Share to Cerebellum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family Health

Share to Hypogonadism

Share to Phenotype

Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 10935859
DOI: 10.1007/BF03028811

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian family.PMID 10935859Read ↗

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.Semantic proximity Read ↗

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.Semantic proximity Read ↗

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.Semantic proximity Read ↗

Clinical and Genetic Study of Ataxia With Vitamin E DeficiencySemantic proximity Read ↗

Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases.Semantic proximity Read ↗

Aprataxin gene mutations in Tunisian families.Semantic proximity Read ↗

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.Semantic proximity Read ↗

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxiaSemantic proximity Read ↗

[Autosomal recessive cerebellar ataxias].Semantic proximity Read ↗

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): A family with five affected sibs from TurkeySemantic proximity Read ↗

Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan.Semantic proximity Read ↗

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

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