Objective: This study aims to determine genotype-phenotype characteristics that can help diagnose hereditary ataxia, a rare disease. Methods: The findings of clinical, laboratory, electrophysiological, and magnetic resonance imaging thirteen patients with ataxia in the last five years were reported this study. Phenotypic expressions genetically proved mutation also reviewed. Results: We report ...

A 10-year-old male was referred with difficulties at school. He had particular difficulty with reading long words, following the sequence of text down a page, writing words in the correct order, writing words in line, and copying from the blackboard. He had a history of infective endocarditis complicated by intracerebral haemorrhage at the age of three years. Detailed history taking revealed sy...

The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors desc...

A 2-year-old boy presented with delayed motor skills and language since birth. Family history disclosed consanguineous parents. Examination showed global muscular hypotonia, optic atrophy, oculomotor apraxia, and normal head circumference. Brain MRI showed optic atrophy and macrocerebellum (figure). Laboratory tests revealed deficient activity of a-L-iduronidase in peripheral blood leukocytes a...