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Intronic expansion of the GGGGCC hexanucleotide repeat within the C9ORF72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial and sporadic cases. Initial reports indicate that this variant within the frontotemporal dementia/amyotrophic lateral sclerosis spectrum is associated with transactive response(More)
Cerebrotendinous xanthomatosis is an autosomal recessive disorder of bile acid metabolism causing a range of progressive neurological symptoms. Even in the presence of the classical triad of neurological dysfunction, tendon xanthoma and early onset cataracts, the diagnosis is often missed. It can mimic more common conditions such as hereditary spastic(More)
BACKGROUND Cerebellar ataxias are the result of diverse disease processes that can be genetic or acquired. Establishing a diagnosis requires a methodical approach with expert clinical evaluation and investigations. We describe the causes of ataxia in 1500 patients with cerebellar ataxia. METHODS All patients were referred to the Sheffield Ataxia Centre,(More)
Neurogenetic tests are increasingly requested by clinical neurologists without any formal training in clinical genetics. The aim of our study was to assess the documentation of consent and disclosure of genetic test results in a large regional clinical neuroscience centre. Documentation of some form of consent was evident in only 26/132 (20 %) of tests.(More)
The myelin protein zero gene (MPZ) encodes the major structural protein component of myelin in the peripheral nervous system. More than 120 mutations in MPZ have been detected so far. Clinical phenotypes include CMT1B, CMT2, Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. We report a new previously unreported mutation in the MPZ gene(More)
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