Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Paraneoplastic neurologic syndromes (PNS) are rare disorders of the nervous system that cannot be ascribed to metastases or to destruction of vital systemic organs by the tumor or its treatment. Most frequently, PNS occur in association with small-cell lung, breast or ovarian carcinomas. The most frequent PNS is Lambert-Eaton myasthenic syndrome, which at the same time has the highest predictive value concerning an underlying carcinoma. PNS have been classified mostly under anatomical aspects but now are increasingly categorized according to specific antibodies. In certain neurologic syndromes (sensible and autonomic neuropathy, cerebellitis, limbic encephalitis, Opsoclonus-Myoclonus syndrome, Stiff-man syndrome, neuromyotonia, subacute amaurosis) specific autoantibodies are highly predictive for a neoplasm. Pathogenic relevance of these autoantibodies has been demonstrated only for antibodies against (1) voltage gated calcium channels (VGCC) in Lambert-Eaton myasthenic syndrome, (2) voltage gated potassium channels (VGKC) in neuromyotonia, and (3) recoverin in cancer associated retinopathy. The present article deals with the neurological symptoms of PNS, associated tumors, and the relevance of specific antibodies for the diagnosis and pathogenesis of PNS.
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PMID:[Paraneoplastic neurologic syndromes. Diagnostic and pathogenetic significance of autoantibodies]. 1070 18

Lafora's disease (LD) is a comparatively frequent and particularly severe type of progressive myoclonus epilepsy. Prevalence varies, LD is seen everywhere but is more common in geographic isolates and areas with high degree of inbreeding. Onset occurs during adolescence, with generalized tonic-clonic, clonic-tonic-clonic seizures, action and resting myoclonus, negative myoclonus, and focal occipital seizures with transient amaurosis. The course is marked by prominent cognitive deterioration, which can precede seizures and myoclonus, and by the progressive, relentless increase of seizures and myoclonus. Transmission is autosomal recessive. LD is genetically heterogeneous. Mutations/deletions of the EPM2A gene, localized in 1995 on 6q24, are found in 80p.cent (product: laforin), the less common EPM2B variant is on 6p22 (product: malin), but these two localizations do not account for all cases of LD. The diagnosis of LD may be suspected on the basis of the family history, age at onset, typical appearance of symptoms, rapid worsening of cognitive function, evaluation of fairly typical EEG aspects, and can easily be confirmed by axillar skin biopsy with proof of Lafora bodies (polyglucosan aggregates) in the sweat duct cells. Other biopsies, like brain biopsy, are generally not necessary. Genetic testing is useful for diagnosis but the genetic heterogeneity cannot rule out LD when none of the known mutations are detected. Genetic counselling and prenatal diagnosis are theoretically possible when the genetic anomaly has been documented in an affected member of the family. The treatment of LD remains purely symptomatic. Drugs that may aggravate myoclonus must be avoided. Psychological and social management is of utmost importance in LD. Death occurs 4 to 10 years after onset in typical forms.
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PMID:[Lafora's disease (EPM2)]. 1730 72