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 la...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 ofAtaxia 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.展开更多
Neuromyelitis optica is a clinical syndrome characterised by acute transverse myelitis plus an acute or subacute optic neuritis with or without recovery. Alt hough once believed to be a variant of multiple sclerosis, ...Neuromyelitis optica is a clinical syndrome characterised by acute transverse myelitis plus an acute or subacute optic neuritis with or without recovery. Alt hough once believed to be a variant of multiple sclerosis, diagnostic criteria h ave recently been proposed for neuromyelitis optica, making it a clinically dist inct syndrome. The term gluten sensitivity refers to a state of heightened immun ological responsiveness to ingested gluten in genetically susceptible individual s, as indicated by circulating antibodies to gliadin. Several neurological compl ications have been described associated with gluten sensitivity ranging from per ipheral neuropathy and cerebellar ataxia to an increased risk of epilepsy. Altho ugh myelopathy has been described in some case reports of coeliac disease, neuro myelitis optica has never been described in association with gluten sensitivity. We describe two cases of gluten sensitivity presenting as neuromyelitis optica with no previous history of significant gastrointestinal symptoms. Gluten sensit ivity was confirmed by immunological and histological studies.展开更多
文摘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 ofAtaxia 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.
文摘Neuromyelitis optica is a clinical syndrome characterised by acute transverse myelitis plus an acute or subacute optic neuritis with or without recovery. Alt hough once believed to be a variant of multiple sclerosis, diagnostic criteria h ave recently been proposed for neuromyelitis optica, making it a clinically dist inct syndrome. The term gluten sensitivity refers to a state of heightened immun ological responsiveness to ingested gluten in genetically susceptible individual s, as indicated by circulating antibodies to gliadin. Several neurological compl ications have been described associated with gluten sensitivity ranging from per ipheral neuropathy and cerebellar ataxia to an increased risk of epilepsy. Altho ugh myelopathy has been described in some case reports of coeliac disease, neuro myelitis optica has never been described in association with gluten sensitivity. We describe two cases of gluten sensitivity presenting as neuromyelitis optica with no previous history of significant gastrointestinal symptoms. Gluten sensit ivity was confirmed by immunological and histological studies.
