Publications by authors named "Zacharia Saied"
Article Synopsis
- Autosomal recessive cerebellar ataxias (ARCA) are a group of diverse neurodegenerative disorders that often manifest before adulthood, caused by different genetic mutations in affected individuals.
- The study reported on four Tunisian patients from a consanguineous family, two diagnosed with ataxia with vitamin E deficiency (AVED) and two with oculo-motor apraxia 2 (AOA2), highlighting clinical and genetic distinctions between their conditions.
- Genetic testing confirmed the diagnoses, revealing a common pathogenic variant and a new variant, emphasizing the complexities of genetic counseling in inbred populations due to increased occurrence of rare disorders.
CLCN2-related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the gene and leads to the dysfunction of its encoded CLC-2 chloride channel protein with characteristic brain MRI features of leukoencephalopathy. We report the first Tunisian patient with clinical features of ClCN-2-related leukoencephalopathy.
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