Browsing HMS Scholarly Articles by Keyword "Ataxia"

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    • Ataxia induced by a thymic neuroblastoma in the elderly patient 

      Wiesel, Ory; Bhattacharyya, Shamik; Vaitkevicius, Henrikas; Prasad, Sashank; McNamee, Ciaran (BioMed Central, 2015)
      Thymic neuroblastoma is a rare tumor with only few reports in modern literature. Whereas most data is taken from childhood neuroblastoma, little is known about the characteristics of the disease in the adult and elderly ...

    • ATP1A3 Mutation in Adult Rapid-Onset Ataxia 

      Sweadner, Kathleen J.; Toro, Camilo; Whitlow, Christopher T.; Snively, Beverly M.; Cook, Jared F.; Ozelius, Laurie J.; Markello, Thomas C.; Brashear, Allison (Public Library of Science, 2016)
      A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of Na,K-ATPase. Several ...

    • Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency 

      Lieber, Daniel S; Hershman, Steven G; Slate, Nancy G; Calvo, Sarah E; Sims, Katherine B; Schmahmann, Jeremy D; Mootha, Vamsi K (BioMed Central, 2014)
      Background: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. ...