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16,614 results
  • Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F. [Journal Article]
  • NGNeurol Genet 2018; 4(3):e240
  • Shanbhag NM, Geschwind MD, … Toro C
  • CONCLUSIONS: These cases illustrate the role of NER dysfunction in neurodegeneration and how adult-onset neurodegeneration could be the major symptom bringing XP-F patients to clinical attention. XP-F should be considered by neurologists in the differential diagnosis of patients with adult-onset progressive neurodegeneration accompanied by global brain atrophy and a history of heightened sun sensitivity, excessive freckling, and skin malignancies.
  • Drug treatment. [Journal Article]
  • HCHandb Clin Neurol 2018; 155:371-377
  • Perlman S, Boltshauser E
  • There are no approved disease-modifying therapies for any of the inherited cerebellar ataxias. Drug treatment in childhood ataxia is still very limited. Effective treatments are available for only a ...
  • [Chorea due to chronic subdural hematoma]. [Journal Article]
  • RSRinsho Shinkeigaku 2018 Jun 01
  • Shiraishi T, Sengoku R, … Murayama S
  • An 86-year-old woman presented with generalized chorea in the face and extremities, which gradually progressed for two weeks. Cranial CT revealed a chronic subdural hematoma (CSDH) that covered the l...
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