Last update 19 Sep 2024
Gerstmann-Straussler-Scheinker Disease
Last update 19 Sep 2024
Basic Info
Synonyms Disease, Gerstmann-Straussler, Diseases, Gerstmann-Straussler, ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE + [37] |
Introduction An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75) |
Related
Biomarker Profiling in Individuals at Risk for Prion Disease
100 Clinical Results associated with Gerstmann-Straussler-Scheinker Disease
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100 Translational Medicine associated with Gerstmann-Straussler-Scheinker Disease
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23 Jan 2024Movement disorders clinical practice
Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
Article
Author: Christopher D Stephen ; Claudio Melo de Gusmao ; Sharan R Srinivasan ; Abby Olsen ; Fernando Freua ; Fernando Kok ; Renata Montes Garcia Barbosa ; Jin Yun Helen Chen ; Brian S Appleby ; Thomas Prior ; Matthew P Frosch ; Jeremy D Schmahmann
BACKGROUND:
Genetic prion diseases, including Gerstmann-Sträussler-Scheinker disease (GSS), are extremely rare, fatal neurodegenerative disorders, often associated with progressive ataxia and cognitive/neuropsychiatric symptoms. GSS typically presents as a rapidly progressive cerebellar ataxia, associated with cognitive decline. Late-onset cases are rare.
OBJECTIVE:
To compare a novel GSS phenotype with six other cases and present pathological findings from a single case.
METHODS:
Case series of seven GSS patients, one proceeding to autopsy.
RESULTS:
Case 1 developed slowly progressive gait difficulties at age 71, mimicking a spinocerebellar ataxia, with a family history of balance problems in old age. Genome sequencing revealed a heterozygous c.392G > A (p.G131E) pathogenic variant and a c.395A > G resulting in p.129 M/V polymorphism in the PRNP gene. Probability analyses considering family history, phenotype, and a similar previously reported point mutation (p.G131V) suggest p.G131E as a new pathogenic variant. Clinical features and imaging of this case are compared with those six additional cases harboring p.P102L mutations. Autopsy findings of a case are described and were consistent with the prion pathology of GSS.
CONCLUSIONS:
We describe a patient with GSS with a novel p.G131E mutation in the PRNP gene, presenting with a late-onset, slowly progressive phenotype, mimicking a spinocerebellar ataxia, and six additional cases with the typical P102L mutation.
01 Jan 2024Dermatology (Basel, Switzerland)
Searching for a "window of opportunity" in the treatment of vulvar lichen sclerosus: evidence for therapeutic benefits of an early corticosteroid treatment.
Article
Author: Alessandro Borghi ; Maria Elena Flacco ; Natale Schettini ; Giulia Toni ; Monica Corazza
BACKGROUND:
Vulvar lichen sclerosus (VLS) is characterized by progressive anatomical changes which become increasingly severe and irreversible.
OBJECTIVES:
To investigate if a "window of opportunity" exists in VLS, i.e. to assess if an early treatment may prevent disease progression and facilitate clearance of symptoms and/or signs. Methods This retrospective, cohort study included VLS patients treated for the first time with a topical corticosteroid, namely with mometasone furoate 0.1% ointment, for 12 weeks (2016-2021). Scoring of subjective symptoms (global subjective score, GSS, and dyspareunia) and clinical features (global objective score, GOS, and sclerosis-scarring-atrophy) was performed at baseline (T0) and at the control visit (T1). We assessed if the achievement of clearance in GSS, GOS, sclerosis-scarring-atrophy or dyspareunia depended on the time elapsed between VLS onset and treatment initiation.
RESULTS:
Among the 169 patients (59.2±13.2 years) included, the median time between VLS onset and first treatment was 14.0 months. At T1, 48.8% of patients achieved clearance of GSS, 28% of GOS and 11.9% of both GSS and GOS, 57.9% of dyspareunia and 23.1% of sclerosis-scarring-atrophy. Logistic regression model showed that each 10-month increase in treatment initiation adversely affected the clearance of GSS and starting treatment within 6 months of disease onset was significantly associated with clearance of GOS and sclerosis-scarring-atrophy.
CONCLUSION:
Early treatment is crucial in determining a complete healing of VLS-related symptoms and signs, especially of tissue sclerosis-scarring-atrophy, that appear poorly responsive, or even unresponsive, after the earliest stages of the disease. Thus, our findings provide evidence for a 'window of opportunity' in VLS treatment.
01 Jan 2024PloS one
Molecular signature of stem-like glioma cells (SLGCs) from human glioblastoma and gliosarcoma.
Article
Author: Christina Zechel ; Mira Loy ; Christiane Wegner ; Eileen Dahlke ; Birga Soetje ; Laura Baehr ; Jan Leppert ; Johannes J Ostermaier ; Thorben Lueg ; Jana Nielsen ; Julia Elßner ; Viktoria Willeke ; Svenja Marzahl ; Volker Tronnier ; Amir Madany Mamlouk
Glioblastoma multiforme (GBM) and the GBM variant gliosarcoma (GS) are among the tumors with the highest morbidity and mortality, providing only palliation. Stem-like glioma cells (SLGCs) are involved in tumor initiation, progression, therapy resistance, and relapse. The identification of general features of SLGCs could contribute to the development of more efficient therapies. Commercially available protein arrays were used to determine the cell surface signature of eight SLGC lines from GBMs, one SLGC line obtained from a xenotransplanted GBM-derived SLGC line, and three SLGC lines from GSs. By means of non-negative matrix factorization expression metaprofiles were calculated. Using the cophenetic correlation coefficient (CCC) five metaprofiles (MPs) were identified, which are characterized by specific combinations of 7-12 factors. Furthermore, the expression of several factors, that are associated with GBM prognosis, GBM subtypes, SLGC differentiation stages, or neural identity was evaluated. The investigation encompassed 24 distinct SLGC lines, four of which were derived from xenotransplanted SLGCs, and included the SLGC lines characterized by the metaprofiles. It turned out that all SLGC lines expressed the epidermal growth factor EGFR and EGFR ligands, often in the presence of additional receptor tyrosine kinases. Moreover, all SLGC lines displayed a neural signature and the IDH1 wildtype, but differed in their p53 and PTEN status. Pearson Correlation analysis identified a positive association between the pluripotency factor Sox2 and the expression of FABP7, Musashi, CD133, GFAP, but not with MGMT or Hif1α. Spherical growth, however, was positively correlated with high levels of Hif1α, CDK4, PTEN, and PDGFRβ, whereas correlations with stemness factors or MGMT (MGMT expression and promoter methylation) were low or missing. Factors highly expressed by all SLGC lines, irrespective of their degree of stemness and growth behavior, are Cathepsin-D, CD99, EMMPRIN/CD147, Intβ1, the Galectins 3 and 3b, and N-Cadherin.
08 Oct 2021
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