A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids


Ahmed R., Guerreiro R., Rohrer J. D. , Guven G. , Rossor M. N. , Hardy J., ...Daha Fazla

JOURNAL OF THE NEUROLOGICAL SCIENCES, cilt.332, ss.141-144, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 332
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.jns.2013.06.007
  • Dergi Adı: JOURNAL OF THE NEUROLOGICAL SCIENCES
  • Sayfa Sayıları: ss.141-144

Özet

We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter change with a frontal predominance and associated atrophy in two members of the family. Genetic testing revealed a novel mutation c.2342C > T (p.A781V) in the CSF1R gene in two brothers of the family. This report highlights the difficulties in diagnosing HDLS and discusses the indications for testing for mutations in the CSF1R gene. (C) 2013 The Authors. Published by Elsevier B.V. All rights reserved.