Variable expression of a novel PLP1 mutation in members of a family with pelizaeus-merzbacher disease

Aviva Fattal-Valevski, Miriam S. DiMaio, Fuki M. Hisama, Grace M. Hobson, Angelique Davis-Williams, James Y. Garbern, Maurice J. Mahoney, Edwin H. Kolodny, Gregory M. Pastores

Research output: Contribution to journalArticlepeer-review


Pelizaeus-Merzbacher disease is a rare X-linked disorder caused by mutations of the proteolipid protein 1 gene that encodes a structural component of myelin. It is characterized by progressive psychomotor delay, nystagmus, spastic quadriplegia, and cerebellar ataxia. Variable clinical expression was seen in 5 members of a family bearing a novel missense mutation in proteolipid protein 1, c.619T>C. Symptomatic patients included a 6-year-old girl, her younger brother, and their maternal uncle, a 29-year-old college graduate initially diagnosed with cerebral palsy; their brain magnetic resonance imaging studies showed diffuse dysmyelination. The mother had a history of delayed walking, achieved independently by age 3; she and the maternal grandmother were asymptomatic on presentation. Review of clinical information and family history led to consideration of Pelizaeus-Merzbacher disease. Subsequent identification of the causal mutation enabled preimplantation genetic diagnosis and the birth of an unaffected child.

Original languageEnglish
Pages (from-to)618-624
Number of pages7
JournalJournal of Child Neurology
Issue number5
StatePublished - 2009


  • Cerebral palsy
  • Nystagmus
  • Pelizaeus-Merzbacher disease
  • Preimplantation genetic diagnosis
  • Proteolipid protein


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