Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised α-fetoprotein

Journal of Neurology volume 251, pages805–812(2004)Cite this article

Abstract.

We describe three patients from two families with progressive spinocerebellar ataxia, peripheral neuropathy, raised α-fetoprotein (AFP) and hypercholesterolaemia. Two siblings had identical clinical features, with late childhood onset of symptoms and slow progression, requiring crutches to walk at ages 37 and 38 years. Another patient developed ataxia aged 13 years and became wheel-chair bound by 20 years of age. Although they all had raised serum AFP levels, their clinical, immunological, biochemical, cytogenetic and molecular genetic studies failed to support a diagnosis of Ataxia Telangiectasia. Extensive investigation including imaging, biochemical and genetic studies excluded other known ataxias. Their clinical features most closely resemble the phenotype of a single consanguineous Japanese family with four individuals affected by spinocerebellar ataxia, peripheral neuropathy, raised AFP and hypercholesterolaemia. Homozygosity mapping has identified a locus in this Japanese family at 9q34. Haplotype analysis of our cases demonstrated possible linkage to 9q34, suggesting these may be the first Caucasian families described with this disorder.

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Affiliations

  1. Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, OX3 7BN, UK

    Andrea H. Németh & Anjela Meesaq

  2. Department of Neurophysiology, Guy’s, King’s and St Thomas’ School of Medicine and King’s College Hospital, Denmark Hill Campus, London SE5 9RS, UK

    Kerry R. Mills

  3. CRC Institute for Cancer Studies Vincent Drive, University of Birmingham, Edgbaston Birmingham, B15 2TT, UK

    A. Malcolm R. Taylor

  4. Department of Neurology Academic Neurosciences Building, King’s College Hospital, Kings Denmark Hill Campus, Denmark Hill, London SE5 9RS, UK

    Christopher E. Shaw

  5. Department of Clinical Genetics, Guy’s and St Thomas’ Hospital NHS Trust, St Thomas Street, London SE1 9RT, UK

    Louise Izatt PhD, MRCP

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  1. Louise Izatt PhD, MRCP
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  2. Andrea H. Németh
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  3. Anjela Meesaq
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  4. Kerry R. Mills
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  5. A. Malcolm R. Taylor
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  6. Christopher E. Shaw
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Correspondence to Louise Izatt PhD, MRCP.

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Izatt, L., Németh, A.H., Meesaq, A. et al. Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised α-fetoprotein. J Neurol 251, 805–812 (2004). https://doi.org/10.1007/s00415-004-0427-y

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Key words

  • spinocerebellar ataxia
  • raised AFP
  • peripheral neuropathy
  • autosomal recessive
  • ataxia telangiectasia variant