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A Diagnostic Approach to Spastic ataxia Syndromes.

José Luiz PedrosoThiago Cardoso ValeMarcondes C França JuniorMarcelo A KauffmanHelio TeiveOrlando Graziani Povoas BarsottiniRenato Puppi Munhoz
Published in: Cerebellum (London, England) (2021)
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often presents with heterogenous clinical features with other neurologic and non-neurological symptoms, resulting in complex phenotypes. In this review, the differential diagnosis of spastic ataxias are discussed and classified in accordance with inheritance. Establishing an organized classification method based on mode inheritance is fundamental for the approach to patients with these syndromes. For each differential, the clinical features, neuroimaging and genetic aspects are reviewed. A diagnostic approach for spastic ataxias is then proposed.
Keyphrases
  • cerebral palsy
  • botulinum toxin
  • upper limb
  • early onset
  • machine learning
  • deep learning
  • spinal cord injury
  • physical activity
  • gene expression
  • depressive symptoms
  • genome wide