PT  - JOURNAL ARTICLE
AU  - D G Evans
AU  - D Bourn
AU  - A Wallace
AU  - R T Ramsden
AU  - J D Mitchell
AU  - T Strachan
TI  - Diagnostic issues in a family with late onset type 2 neurofibromatosis.
AID  - 10.1136/jmg.32.6.470
DP  - 1995 Jun 01
TA  - Journal of Medical Genetics
PG  - 470--474
VI  - 32
IP  - 6
4099  - http://jmg.bmj.com/content/32/6/470.short
4100  - http://jmg.bmj.com/content/32/6/470.full
SO  - J Med Genet1995 Jun 01; 32
AB  - We report a family with type 2 neurofibromatosis and late onset tumours. Five members of this family have developed hearing loss late in life, two of whom have only been shown to have the diagnosis in their seventies, and three other obligate gene carriers died undiagnosed at 64, 72, and 78 years of age. A missense mutation at the C-terminal end of the NF2 protein has been identified in this family and segregates with disease. The use of highly polymorphic markers for predictive testing is also shown. There appears to be an autosomal dominant form of spinocerebellar degeneration which is segregating separately to NF2 in this family, which created a diagnostic dilemma.