Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 81 year old right handed woman developed a left alien hand syndrome characterised by involuntary movements of choking and hitting the face, neck, and shoulder. The patient showed multiple disorders of primary sensation, sensory processing, hemispatial attention, and visual association, as well as a combination of sensory, optic, and cerebellar ataxia (triple ataxia) of the left arm in the absence of motor neglect or hemiparesis. Imaging studies disclosed subacute infarction in the right thalamus, hippocampus, inferior temporal lobes, splenium of corpus callosum, and occipital lobe due to right posterior cerebral artery occlusion. This rare syndrome should be considered as a "sensory" or "posterior" form of the alien hand syndrome, to be distinguished from the "motor" or "anterior" form described more commonly.
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PMID:Sensory alien hand syndrome: case report and review of the literature. 972 52

The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues.
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PMID:Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. 1749 8

Repeat-associated non-ATG (RAN) translation is emerging as a driver of pathogenesis in microsatellite expansion disorders. Green and colleagues recently identified several candidate RAN translation inhibitors from a high-throughput small-molecule screen for fragile X tremor ataxia syndrome. Their study establishes a path forward for identifying inhibitors of RAN translation for multiple disorders.
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PMID:Drug Screen Tugs at Common Thread for Repeat Disorders. 3164 34