Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

doi:10.1002/ajmg.b.31227

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

Community

Back to search

Article

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Dec 2011

Kaya Namik, Aldhalaan Hesham, Al-Younes Banan, Colak Dilek, Shuaib Taghreed, Al-Mohaileb Fahad, Al-Sugair Abdulaziz, Nester Michael, Al-Yamani Suad, Al-Bakheet Albandary, Al-Hashmi Nadia, Al-Sayed Moeen, Meyer Brian, Jungbluth Heinz, Al-Owain Mohammed

Abstract excerpt

We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene. The linkage analysis revealed a high logarithm of the odds (LOD) score region on 8q that harbors the CA8 in which a novel homozygous c.484G>A (p.G162R) mutation...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers, Tumor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brain

Share to Cerebellar Ataxia

Share to Gene Regulatory Networks

Share to Infant

Share to Infant, Newborn

Share to Magnetic Resonance Imaging

Share to Positron-Emission Tomography

Source

Open in PubMed

Identifiers

PMID: 21812104
DOI: 10.1002/ajmg.b.31227

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.PMID 21812104Read ↗

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.Semantic proximity Read ↗

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.Semantic proximity Read ↗

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.Semantic proximity Read ↗

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.Semantic proximity Read ↗

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4Semantic proximity Read ↗

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

Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.Semantic proximity Read ↗

Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.Semantic proximity Read ↗

Carbonic anhydrase related protein VIII and its role in neurodegeneration and cancer.Semantic proximity Read ↗

Neuroradiological findings in GAA-<i>FGF14</i>ataxia (SCA27B): more than cerebellar atrophySemantic proximity Read ↗

Novel Imaging Phenotype in Spinal Cerebellar Ataxia Type 8: Symmetrical White Matter Changes without Cerebellar Atrophy.Semantic proximity Read ↗

X-linked congenital ataxia: a new locus maps to Xq25-q27.1.Semantic proximity Read ↗

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