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Molecular genetic diagnosis of Friedreich’s ataxia in a pedigree with apparent autosomal dominant spinocerebellar degeneration
  1. RAJITH DE SILVA,
  2. RICHARD PETTY
  1. Department of Neurology, Institute of Neurosciences, Southern General Hospital, 1345 Govan Road, Glasgow G51 4TF, Scotland, UK
  2. Monklands District General Hospital, Monkscourt Avenue, Airdrie ML6 0JS, Scotland, UK
  3. Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, Scotland, UK
  1. Dr R de Silva, Old Church Hospital, Old Church Road, Romford RM7 0BE, UK.
  1. MARY LOUDON
  1. Department of Neurology, Institute of Neurosciences, Southern General Hospital, 1345 Govan Road, Glasgow G51 4TF, Scotland, UK
  2. Monklands District General Hospital, Monkscourt Avenue, Airdrie ML6 0JS, Scotland, UK
  3. Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, Scotland, UK
  1. Dr R de Silva, Old Church Hospital, Old Church Road, Romford RM7 0BE, UK.
  1. CATHERINE FREW,
  2. ALEXANDER COOKE,
  3. ROSEMARIE DAVIDSON
  1. Department of Neurology, Institute of Neurosciences, Southern General Hospital, 1345 Govan Road, Glasgow G51 4TF, Scotland, UK
  2. Monklands District General Hospital, Monkscourt Avenue, Airdrie ML6 0JS, Scotland, UK
  3. Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, Scotland, UK
  1. Dr R de Silva, Old Church Hospital, Old Church Road, Romford RM7 0BE, UK.

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Friedreich’s ataxia is a progressive neurodegenerative disorder of autosomal recessive inheritance, in which gait ataxia followed by upper limb ataxia, dysarthria, nystagmus, areflexia, loss of joint position sense, and spastic paraparesis develop from the second decade of life.1 It is the commonest hereditary ataxia, with a prevalence of 1 in 50 000 and a deduced carrier frequency in European populations of 1 in 120. Recently, Friedreich’s ataxia has been associated with mutations of the frataxin gene on chromosome 9 (X25 at 9q13).2 Most patients are homozygous for expansions of a GAA triplet repeat within intron 1 of this gene. Normal alleles have between 7 and 22 repeats, whereas the range in affected patients is 200 to 900 copies. Around 5% of patients carry heterozygous mutations, a GAA expansion on one allele being accompanied by a point mutation on the other. In this report, the clinical features of a family being investigated for presumed autosomal dominant spinocerebellar degeneration, and in which GAA expansions were identified, are reported. The finding raises the possibility that heterozygous carriers of this mutation may manifest clinical symptoms and signs.

The proband (figure; III.1) is currently 28 years of age, and has a 10 …

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