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)

This paper deals with an unusual case of Alzheimer's disease with early onset, no family history, myoclonus, tonic generalized seizures and pseudo-periodic spikes on EEG. The demise occurred after 8 years of progressive cognitive deterioration; the pathological examination showed "Pick-like" atrophy, neurofibrillary tangles, senile plaques, congophilic angiopathy and cerebellar amyloid plaques. The genetical research could not support the hypothesis of a mutation of Presenilin 1 and 2 genes. Anyway, the peculiarity of the phenotype is worthy to be described even in the absence of specific molecular findings.
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PMID:Atypical Alzheimer's disease: a case report. 2055 42

Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline. This article reviews publications on the clinical neurological phenotype of PSEN1 mutations published between October 2008 and April 2013 and integrates this information with previous reviews to produce tabular summaries of phenotype and genotype. With the possible exception of "variant AD" (familial AD with spastic paraparesis), no clinical genotype-phenotype correlations are obvious. The mechanisms underpinning the clinical heterogeneity associated with PSEN1 mutations remain unclear. The "presenilin hypothesis" posits a loss of essential presenilin protein functions as a consequence of gene mutation, which might be one factor influencing disease phenotype.
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PMID:Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships. 2394 99