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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Schizophrenia01:17

Schizophrenia

Schizophrenia, a term introduced by Swiss psychiatrist Eugen Bleuler in 1911, describes a severe psychological disorder marked by profound disruptions in attention, thought processes, language, emotion, and interpersonal relationships. The core feature of schizophrenia is psychosis — a state characterized by a fundamental detachment from reality. This disconnection manifests through distorted logic, impaired perception, and atypical behavior, severely affecting the lives of those diagnosed.
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Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...

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Gerstmann-Sträussler-Scheinker Disease: A Case Report.

Minji Shin, Donghyun Kim, Young Jin Heo

    Journal of the Korean Society of Radiology
    |June 16, 2023
    PubMed
    Summary

    Gerstmann-Sträussler-Scheinker disease, a rare inherited prion disorder, presents with ataxia and cognitive decline. Genetic testing confirmed GSS disease in a 39-year-old male with characteristic MRI findings and family history.

    Keywords:
    Gerstmann-Straussler-Scheinker SyndromeMagnetic Resonance ImagingPrion DiseasePrion Protein

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    Area of Science:

    • Neuroscience
    • Genetics
    • Neuropathology

    Background:

    • Gerstmann-Sträussler-Scheinker (GSS) disease is a rare, autosomal dominant, inherited prion disease.
    • It is characterized by progressive cerebellar ataxia, cognitive impairment, and other neurological deficits.

    Observation:

    • A 39-year-old male presented with progressive gait disturbance, dysarthria, and cognitive decline.
    • Brain MRI revealed multifocal symmetric diffusion-restricted lesions in the cerebral cortices, basal ganglia, and thalami.
    • Family history indicated similar symptoms in relatives during their 40s-50s.

    Findings:

    • The patient was diagnosed with GSS disease.
    • Genetic confirmation was achieved through real-time quaking-induced conversion (RT-QuIC) and PRNP gene sequencing.
    • The findings highlight the diagnostic utility of RT-QuIC and PRNP sequencing in GSS disease.

    Implications:

    • This case underscores the importance of considering GSS disease in young adults with progressive neurological symptoms.
    • Early and accurate diagnosis is crucial for genetic counseling and potential future therapeutic strategies.
    • Further research into prion diseases can improve understanding and management of these rare conditions.