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(nystagmus)
17,413 results
  • Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination. [Journal Article]
    Eur J Neurol 2019Chelban V, Alsagob M, … Kaya N
  • CONCLUSIONS: We show that NKX6-2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. Therefore, we recommend that NXK6-2 should be included in hypomyelinating leukodystrophy and spastic-ataxia diagnostic panels.
  • The Lhermitte-Duclos disease: a rare bilateral cerebellar location of a rare pathology. [Case Reports]
    Pan Afr Med J 2019; 33:118Borni M, Kammoun B, … Boudawara MZ
  • Dysplastic gangliocytoma or Lhermitte-Duclos disease is a rare disorder characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. It is probably hamartomatous, although the exact pathogenesis remains unknown. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). It typically presents in young adults…
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