Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene,encoding carbonic anhydrase (CA) VIII |
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| Authors: | Namik Kaya Hesham Aldhalaan Banan Al‐Younes Dilek Colak Taghreed Shuaib Fahad Al‐Mohaileb Abdulaziz Al‐Sugair Michael Nester Suad Al‐Yamani Albandary Al‐Bakheet Nadia Al‐Hashmi Moeen Al‐Sayed Brian Meyer Heinz Jungbluth Mohammed Al‐Owain |
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| Affiliation: | 1. Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia;2. Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia;3. Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia;4. Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia;5. Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia;6. Clinical Neuroscience Division, IOP, King's College, London, UK;7. Department of Paediatric Neurology, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK;8. College of Medicine, Alfaisal University, Riyadh, Saudi Arabia |
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| Abstract: | 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. |
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| Keywords: | cerebellar ataxia mental retardation and dysequilibrium syndrome CA8 carbonic anhydrase VIII |
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