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Article

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

American journal of medical genetics. Part A - 1 Nov 2020

Paternoster Lionel, Soblet Julie, Aeby Alec, De Tiège Xavier, Goldman Serge, Yue Wyatt W, Coppens Sandra, Smits Guillaume, Vilain Catheline, Deconinck Nicolas

Abstract excerpt

We report the case of an 11-year-old Syrian girl born to consanguineous parents, who presents an ataxic gait from early childhood. On clinical examination, she presented a severe static - kinetic cerebellar syndrome, walking without support is possible for short distances only. Strikingly, three consecutive MRIs did not show any sign of cerebellar abnormalities, but a brain positron emission tomography (PET)...

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PMID: 32808436
DOI: 10.1002/ajmg.a.61805

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