Publications by authors named "Nuno J V Cordeiro"

Article Synopsis
  • . Aicardi-Goutières syndrome is an inflammatory disease caused by mutations in seven specific genes, affecting 374 patients studied from 299 families.
  • . Patients typically present with either in utero disease onset (22.8%) or post-natal symptoms within the first year of life (68.6%), leading to severe disabilities and a high mortality rate (19.3%).
  • . A strong link was found between these genetic mutations and increased type I interferon activity, suggesting a need for targeted treatment strategies to address the serious health issues associated with the syndrome.
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Background: Hereditary spastic paraplegia is a neurodegenerative phenotype characterized by a progressive loss of corticospinal motor tract function. In a majority of affected individuals the pathogenesis remains undetermined.

Methods: We identified a series of patients with a phenotype of nonsyndromic spastic paraplegia in whom no diagnosis had been reached before exome sequencing.

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Neurofibromatosis type 2 (NF2) remains a challenging diagnosis in childhood where there may be no neurological involvement. A 12-month-old male in whom NF2 was suspected because of characteristic ophthalmological and cutaneous lesions is reported. Cranial MRI showed no tumours.

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