Prion Diseases: actual clinical and diagnostic aspects

Recently, the problem of neurodegenerative diseases in the medical community has become increasingly relevant. This is due to many factors: from insufficiently studied mechanisms of development of some nosological units to low awareness of medical workers. Among neurodegenerative diseases in humans, prions constitute a very specific group, which are infectious protein particles with a unique morphological structure and capable of causing a number of incurable diseases. Despite years of research, no optimal remedy has yet been found to treat them. This review examines the already studied aspects of prion diseases as a class, including small historical background, features of ethiology, pathogenesis, course and outcome of the most common of them, as well as existing research on experimental methods of diagnostics, treatment and prevention of prion infections.

Clinical and familial characteristics of ten chinese patients with fatal family insomnia / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>Fatal familial insomnia (FFI) is an autosomal dominant prion disease characterized clinically by inattention, sleep loss, dysautonomia, and motor signs. This study is aimed to investigate clinical and familial characteristics of ten Chinese Patients with FFI.</p><p><b>METHODS</b>We identified ten FFI cases from the surveillance network for Creutafeldt-Jakob disease (CJD) in China. Final diagnosis of FFI cases was made in accordance with the WHO criteria for CJD. The main clinical features and family histories of these ten FFI cases were analyzed.</p><p><b>RESULTS</b>The median age of ten cases at onset was 38 years (from 19 to 55). The foremost symptoms seemed to be various, including sleep disturbances, vision disorder, dizziness and anorexia. Sleep disturbances appeared in all cases and lasted in the whole clinical courses. Progressive sympathetic symptoms, memory loss, movement disturbances, myoclonus and hypertension were also frequently observed. The median duration of the disease was 9.5 months. EEG and MRI did not figure out special abnormality. 14-3-3 protein in CSF was positive in five out of eight tested patients. Clear family histories were identified in 8 patients.</p><p><b>CONCLUSION</b>The data from our study confirm that the Chinese FFI cases have similar clinical characteristics as that of the Caucasian cases. Compared with other genetic CJD associated mutations, the genetic frequencies of D178N in PRNP are apparently high among the Chinese cases.</p>

Analysis for clinical and genetic characteristics of a sporadic FFI case / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>To report and study a case of sporadic family fatal insomnia (SFFI) on its.</p><p><b>METHODS</b>Investigate clinical characteristics and family disease history of a suspect FFI patient. His clinical characteristic was analyzed, he and his 14 family members genomic DNA was extracted by standard techniques from their and blood detected with polymerase chain reaction (PCR) method and DNA sequencing to find out his prion protein (PrP) gene mutation. The patient's CSF was detected with Western-Blot method for 14-3-3 brain protein.</p><p><b>RESULTS</b>The patient was diagnosed as an sporadic FFI by his developed sleep disturbance and changes in sleep-awake rhythm, motor abnormalities, mental disorder, dementia, autonomic dysfunction; his family history; his 14-3-3 brain protein-positive (CSF) and analysis results of his PrP gene (codon point mutation D178N and methionine homozygosity at position 129M/M). Suggesting that in the future to identify CJD and FFI patients, screening should focus on clinical symptoms and laboratory results. The PrP gene of 14 family members did not appear Mutation, and there is no person suffering from the same disease.</p><p><b>CONCLUSIONS</b>The case was diagnosed as a sporadic familial fatal insomnia. Analysis of suspicious patients' genomic DNA for PrP gene mutation might be very important for FFI diagnosis because there exist many difficulties in clinical laboratory evaluation. This patient might be the first SFFI patient reported in China and the case finding might have momentousness in clinical and basical study.</p>

Human prion diseases: molecular and clinical phenotypes

Human prian diseases are sporadic, acquired, and genetic neurodegenerative conditions characterized by brain accumulation and deposition of pathological prion protein. These disorders are highly heterogeneous and display a wide range of clinicopathological phenotypes. This well-known phenotypic heterogeneity is thought to be determined by two main disease modifiers: [i] the genotype at polymorphic codon 129 of the prion protein gene [PRNP], allowing three possible combinations, and [ii] the physicochemical properties of the pathological prion protein, or PrPSc, existing under distinct conformational variants. In addition to PrPSc conformation, glycosylation site occupancy of PrPSc at Asp 181 and Asp 197, and truncated PrP fragments may influence the biological properties of prion strains. Here we review molecular and clinical phenotypes encountered in human prion diseases

Enfermedades prion / Prion diseases

Las enfermedades prion son un grupo se desordenes degenerativos del sistema nervioso central que comparten características patológicas crónicas y progresivas. Los agentes causales son un grupo de proteínas infectantes sin presencia de ácidos nucleicos. El objetivo de realizar esta revisión es dar a conocer: qué son las enfermedades priónicas, además de aportar datos sobre su fisiopatología, clasificación, modos de transmisión a si como cuadro clínico, diagnóstico y posible tratamiento para lograr una mayor comprensión de estas patologías. Normalmente en nuestro organismo existen proteínas llamadas proteínas priónicas (PrP) las mismas que poseen un nivel de estructuración de tipo hélice alfa que es susceptible a la lisis por proteasas; la patogénesis de estas proteínas se producen cuando aparece una mutación o un cambio conformacional inducido por PrP patógena de otro individuo lo cual altera su estructura tridimensional haciendo imposible su lisis enzimática y su consecuente acumulación en los tejidos afectados, originando así las enfermedades priónicas.

The prion diseases are a group of degenerative disorders of the central nervous system that have chronic and progressive pathological characteristics in common. These diseases are caused by infectious agents called prion. A prion is a small proteinaceous infectious particle which resists inactivation by procedures that modify nucleic acids. The objective of this article is to understand the different aspects of these diseases and to contribute data about its physiopathology, classification, clinical signs and symptoms, diagnosis and treatment to. There exists a cellular protein known as cellular prion protein PrP that have alpha helix structure susceptible to lysis by protease. The pathogenesis of these proteins are produced when the mutation causes a change in the folding pattern of these protein which makes it resistant to the action of proteases and causes it to precipitate as insoluble amyloid. It accumulates in the affected tissue and causes the disease.

Clinical Features of Other Dementias

Dementias can be calssified into cortical, subcortical, cortical-subcortical and multifocal ones based on the major pathological distribution within the brain. The literatures of recent knowledge about clinical features of other dementias than Alzheimer's and vascular ones, which were most frequently experienced by many clinicians were reviewed. That is, cortical dementias such as Pick's disease, frontal lobe type dementia and non-Alzheimer's type lobar atrophy including fronto-temporal dementia, progressive dysphasia, fronto-temporal dementia with motor neuron disease, and alcohol-related dementia were reviewed. Subcortical dementias such as dementias accompanying Parkinson's disease, Huntington's disease and progressive supranuclear palsy, and cortical-subcortical dementias such as Lewy body dementiaq and cortical-basal degeneration were also reviewed. As multifocal dementias, prion dementias including KUru, Creutzfeldt-Jakob disease, fatal familial insomnia and Gerstmann-Strussler-Sheinker syndrone, and AIDS dementia were also reviewed.