Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
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Autosomal recessive ataxias are a heterogeneous group of rare neurodegenerative diseases characterized by early onset cerebellar ataxia associated with various neurologic, ophthalmologic and systemic signs. In comparison with autosomal dominant ataxias, the group of recessive ataxias is less extensively characterized. In fact, only a few conditions have been genetically characterized. ⋯ Some of these diseases exhibit a peculiar regional distribution. An updated review of the clinical, genetic, and pathogenic aspects of recessive ataxias is presented. Specific management problems with respect to diagnosis and genetic counseling are discussed.
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Case Reports
Extraskeletal Ewing's sarcoma presenting with neurological symptoms. Report of two cases.
Extraosseous Ewing's sarcoma (EES) is an uncommon condition that may develop in soft tissues at any location. Neurological symptoms leading to diagnosis have been reported exceptionally. ⋯ Radiological images showed a paraspinal mass in both cases and biopsy disclosed the histological features of Ewing's sarcoma. EES should be kept in mind in the differential diagnosis of paraspinal soft tissues tumours at any age.