Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2012
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.
In the isolated population of Sardinia, a Mediterranean island, ∼25% of ALS cases carry either a p.A382T mutation of the TARDBP gene or a GGGGCC hexanucleotide repeat expansion in the first intron of the C9ORF72 gene. ⋯ Our data show that in rare neurodegenerative causing genes can co-exist within the same individuals and are associated with a more severe disease course.
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Orthostatic tremor is a rare tremor syndrome triggered exclusively by standing, with pathognomonic neurophysiological features. More recently, it has been suggested that orthostatic tremor can present either in isolation (pure orthostatic tremor) or associated with other movement disorders (orthostatic tremor-plus). The present study aims at expanding the knowledge concerning orthostatic tremor associated with other movement disorders. ⋯ One of the largest series on orthostatic tremor is presented and the second only focused on additional movement disorders. A progressive course was found, with increasing disability associated with orthostatic tremor. Dementia with Lewy bodies and task specific arm dystonia are reported for the first time as associated movement disorders.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2012
ReviewCentral nervous system neuronal surface antibody associated syndromes: review and guidelines for recognition.
The concept of antibody mediated CNS disorders is relatively recent. The classical CNS paraneoplastic neurological syndromes are thought to be T cell mediated, and the onconeural antibodies merely biomarkers for the presence of the tumour. ⋯ The clinical spectrum of these diseases is not yet fully explored, there may be others yet to be discovered and some types of more common disorders (eg, epilepsy or psychosis) may prove to have an autoimmune basis. Here, the known conditions associated with neuronal surface antibodies are briefly reviewed, some general aspects of these syndromes are considered and guidelines that could help in the recognition of further disorders are suggested.