Abstract
Gerstmann-Straussler-Scheinker disease is a familial neurodegeneration characterized clinically by adult-onset ataxia, postural abnormalities, and cognitive decline, and pathologically by amyloid deposits mostly localized in the cerebral and cerebellar cortices and the basal ganglia. The disease is due to mutations in the prion protein gene. Processing of the mutant proteins originates the amyloidogenic fragments that accumulate in the tissue. PrP-immunoreactire amyloid deposits are the morphological hallmark of the disease. Hypertrophic astrocytes, activated microglia, and nerve cell loss are consistently associated with PrP-amyloid deposits, while spongiosis, diffuse PrP immunoreactivity, neurofibrillary tangles, Lewy bodies, and long fiber tracts degeneration are occasionally associated. The clinical and pathological variability observed in GSS families is related to both mutations and the M/V polymorphism at codon 129 of the mutated gene.
| Original language | English |
|---|---|
| Pages (from-to) | 10-15 |
| Number of pages | 6 |
| Journal | Microscopy Research and Technique |
| Volume | 50 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jul 1 2000 |
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Keywords
- Amyloidosis
- Gerstmann-Straussler Syndrome
- Prion diseases
ASJC Scopus subject areas
- Agricultural and Biological Sciences(all)
- Anatomy
- Instrumentation
Cite this
Neuropathology of Gerstmann-Straussler-Scheinker disease. / Bugiani, Orso; Giaccone, Giorgio; Piccardo, Pedro; Morbin, Michela; Tagliavini, Fabrizio; Ghetti, Bernardino.
In: Microscopy Research and Technique, Vol. 50, No. 1, 01.07.2000, p. 10-15.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Neuropathology of Gerstmann-Straussler-Scheinker disease
AU - Bugiani, Orso
AU - Giaccone, Giorgio
AU - Piccardo, Pedro
AU - Morbin, Michela
AU - Tagliavini, Fabrizio
AU - Ghetti, Bernardino
PY - 2000/7/1
Y1 - 2000/7/1
N2 - Gerstmann-Straussler-Scheinker disease is a familial neurodegeneration characterized clinically by adult-onset ataxia, postural abnormalities, and cognitive decline, and pathologically by amyloid deposits mostly localized in the cerebral and cerebellar cortices and the basal ganglia. The disease is due to mutations in the prion protein gene. Processing of the mutant proteins originates the amyloidogenic fragments that accumulate in the tissue. PrP-immunoreactire amyloid deposits are the morphological hallmark of the disease. Hypertrophic astrocytes, activated microglia, and nerve cell loss are consistently associated with PrP-amyloid deposits, while spongiosis, diffuse PrP immunoreactivity, neurofibrillary tangles, Lewy bodies, and long fiber tracts degeneration are occasionally associated. The clinical and pathological variability observed in GSS families is related to both mutations and the M/V polymorphism at codon 129 of the mutated gene.
AB - Gerstmann-Straussler-Scheinker disease is a familial neurodegeneration characterized clinically by adult-onset ataxia, postural abnormalities, and cognitive decline, and pathologically by amyloid deposits mostly localized in the cerebral and cerebellar cortices and the basal ganglia. The disease is due to mutations in the prion protein gene. Processing of the mutant proteins originates the amyloidogenic fragments that accumulate in the tissue. PrP-immunoreactire amyloid deposits are the morphological hallmark of the disease. Hypertrophic astrocytes, activated microglia, and nerve cell loss are consistently associated with PrP-amyloid deposits, while spongiosis, diffuse PrP immunoreactivity, neurofibrillary tangles, Lewy bodies, and long fiber tracts degeneration are occasionally associated. The clinical and pathological variability observed in GSS families is related to both mutations and the M/V polymorphism at codon 129 of the mutated gene.
KW - Amyloidosis
KW - Gerstmann-Straussler Syndrome
KW - Prion diseases
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UR - http://www.scopus.com/inward/citedby.url?scp=0034214842&partnerID=8YFLogxK
U2 - 10.1002/1097-0029(20000701)50:1<10::AID-JEMT3>3.0.CO;2-6
DO - 10.1002/1097-0029(20000701)50:1<10::AID-JEMT3>3.0.CO;2-6
M3 - Article
C2 - 10871543
AN - SCOPUS:0034214842
VL - 50
SP - 10
EP - 15
JO - Microscopy Research and Technique
JF - Microscopy Research and Technique
SN - 1059-910X
IS - 1
ER -