Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple large-scale deletions of mitochondrial DNA. We previously reported missense mutations in POLG, the gene encoding the mitochondrial DNA polymerase gamma in two nuclear families compatible with autosomal recessive progressive external ophthalmoplegia. Here, we report a novel POLG missense mutation (R627W) in a sporadic patient and we provide genetic support that all these POLG mutations are actually causal and recessive. The novel patient presented with sensory ataxic neuropathy and has the clinical triad of sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO). This is the first finding of a genetic cause of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis and it implies that this disorder may actually be a variant of autosomal recessive progressive external ophthalmoplegia. Sensory neuropathy is the initial feature in Belgian compound heterozygote autosomal recessive progressive external ophthalmoplegia patients, all carrying the POLG A467T mutation, which occurs at a frequency of 0.6% in the Belgian population.
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PMID:Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 1256 11

Miller Fisher Syndrome is characterised by the classical triad of ophthalmoplegia, ataxia, and areflexia. Ophthalmoparesis without ataxia, without areflexia, or with neither have been attributed as atypical forms of MFS. We report two patients with MFS who had tonic pupils and raised anti-GQ1b antibody titres. Bilateral dilated pupils (either tonic or fixed) can be a manifestation of MFS and anti-GQ1b immunoglobulin G (IgG) antibodies are useful to confirm the diagnosis in unexplained cases. The site of involvement is thought to be the ciliary ganglion or short ciliary nerves.
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PMID:Pupillary Involvement in Miller Fisher Syndrome. 2816 65