Gerstmann–Sträussler–Scheinker disease with P102L–V129 mutation: a case with psychiatric manifestations at onset

Bianca, Marco; Bianca, Sebastiano; Vecchio, Ignazio; Raffaele, R; Ingegnosi, Carmela; Nicoletti, F

doi:10.1016/s0003-3995(03)00017-0

Cited by 29 publications

(27 citation statements)

References 8 publications

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“…Clinical symptoms in the present case differ from those reported in GSS cases bearing the P102L PRNP mutation [6,12,13,17,29,30]. Cases PRNP [1,[14][15][16][17][18]36].…”

Section: Discussioncontrasting

confidence: 86%

Gerstmann-Straüssler-Scheinker PRNP P102L-129V mutation

Ferrer

Carmona

Blanco

et al. 2011

Translational Neuroscience

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Neuropathological and biochemical studies in a case of Gerstmann-Straüssler-Scheinker disease bearing the PRNP P102L-129V mutation showed numerous multicentric PrP res in the cerebral cortex, striatum, thalamus and cerebellum, PrP res globular deposits in the anterior and posterior horns of the spinal cord, and multiple granular PrP res deposits in the grey and white matter of the encephalon and spinal cord. Western blots with antiPrP res antibodies revealed several weak bands ranging from 36 to 66 kDa, weak bands of 29 and 24 kDa, a strong band of about 20 kDa, a low band of molecular weight around 15 kDa and a weaker band of about 7 kDa. Spongiform degeneration was absent. Hyper-phosphorylated 3R and 4R tau occurred in dystrophic neurites surrounding PrP res plaques, neuropil threads and, to a lesser degree, in the form of neurofibrillary tangles. Gel electrophoresis of sarkosyl-insoluble fractions and western blotting with anti-phospho-tau antibodies showed a pattern similar to that seen in Alzheimer disease cases run in parallel. Dystrophic neurites in the vicinity of PrP res plaques were enriched in voltage dependent anion channel thus suggesting abnormal accumulation of mitochondria. These changes were associated with increased oxidative damage in neurons and astrocytes, Finally, increased expression of active stress kinases, that have the capacity to phosphorylate tau in vitro, p38 (p-38-P) and SAPK/ JNK (SAPK/JNK-P) was found in cell processes surrounding PrP plaques. Together, these observations provide evidences of mitochondrial abnormalities, and increased oxidative stress damage and oxidative stress responses in GSS bearing the PRNP P102L-129V mutation.

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“…Clinical symptoms in the present case differ from those reported in GSS cases bearing the P102L PRNP mutation [6,12,13,17,29,30]. Cases PRNP [1,[14][15][16][17][18]36].…”

Section: Discussioncontrasting

confidence: 86%

Gerstmann-Straüssler-Scheinker PRNP P102L-129V mutation

Ferrer

Carmona

Blanco

et al. 2011

Translational Neuroscience

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“…This situation could explain negative MRIs in the majority of cases with slow progression (Barbanti et al, 1996; Cagnoli et al, 2008). In our case, with a very rapid progression, MRI findings were similar to sCJD findings (Bianca et al, 2003;Irisawa et al, 2007). Another interesting point is the finding of generalized sharp complexes on EEGs that are typical features associated with sCJD (Knight & Will, 2004) and are one of a major diagnostic signs for probable CJD (WHO Manual, 2003).…”

Section: Discussionsupporting

confidence: 71%

Gerstmann–Sträussler–Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt–Jakob disease: a case report and review of the literature

et al. 2013

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Gerstmann-Sträussler-Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes. A pathogenic P102L mutation in the prion gene was detected. Our case differed from classical Gerstmann-Sträussler-Scheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial Creutzfeldt-Jakob disease.

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“…The PRNP polymorphism M129V has been shown to influence the disease phenotype. When linked to V129 allele, P102L, which is the most common cause of GSS, resulted in the predominance of psychiatric signs such as apathy and depression [56]. EEG is rarely diagnostic in GSS.…”

Section: Introductionmentioning

confidence: 99%

An overview of human prion diseases

Imran

Mahmood

2011

Virol J

158

109

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Prion diseases are transmissible, progressive and invariably fatal neurodegenerative conditions associated with misfolding and aggregation of a host-encoded cellular prion protein, PrPC. They have occurred in a wide range of mammalian species including human. Human prion diseases can arise sporadically, be hereditary or be acquired. Sporadic human prion diseases include Cruetzfeldt-Jacob disease (CJD), fatal insomnia and variably protease-sensitive prionopathy. Genetic or familial prion diseases are caused by autosomal dominantly inherited mutations in the gene encoding for PrPC and include familial or genetic CJD, fatal familial insomnia and Gerstmann-Sträussler-Scheinker syndrome. Acquired human prion diseases account for only 5% of cases of human prion disease. They include kuru, iatrogenic CJD and a new variant form of CJD that was transmitted to humans from affected cattle via meat consumption especially brain. This review presents information on the epidemiology, etiology, clinical assessment, neuropathology and public health concerns of human prion diseases. The role of the PrP encoding gene (PRNP) in conferring susceptibility to human prion diseases is also discussed.

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Gerstmann–Sträussler–Scheinker disease with P102L–V129 mutation: a case with psychiatric manifestations at onset

Cited by 29 publications

References 8 publications

Gerstmann-Straüssler-Scheinker PRNP P102L-129V mutation

Gerstmann-Straüssler-Scheinker PRNP P102L-129V mutation

Gerstmann–Sträussler–Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt–Jakob disease: a case report and review of the literature

An overview of human prion diseases

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