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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
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, Volume 156, No. 7, Year 2011
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Description
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 was identified in all seven affected members. The patients had variable cerebellar ataxia and mild cognitive impairment without quadrupedal gait. The brain MRI showed variable cerebellar volume loss and ill-defined peritrigonal white matter abnormalities. The Fluorodeoxyglucose Positron Emission Tomography (FDG PET) revealed hypometabolic cerebellar hemispheres, temporal lobes, and mesial cortex. This report expands the neurological and radiological phenotype associated with CA8 mutations. CA8 involvement should be considered in the differential diagnosis of other genetically unresolved autosomal recessive cerebellar ataxias. © 2011 Wiley-Liss, Inc.
Authors & Co-Authors
Kaya, Namik
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
AlDhalaan, Hesham M.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Younes, Banan
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Çolak, Dilek
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Shuaib, Taghreed
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Mohaileb, Fahad
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Sugair, Abdulaziz Saleh
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Nester, Michael J.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Yamani, Suad
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Bakheet, Al Bandary
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Hashmi, Nadia
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Sayed, Moeen Aldeen A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Meyer, Brian Francis
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Jungbluth, Heinz J.
United Kingdom, London
King's College London
United Kingdom, London
Evelina London Children's Healthcare
Al-Owain, Mohammed Abdulaziz
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Statistics
Citations: 65
Authors: 15
Affiliations: 4
Identifiers
Doi:
10.1002/ajmg.b.31227
ISSN:
15524841
e-ISSN:
1552485X
Research Areas
Cancer
Environmental
Genetics And Genomics