|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Our findings also support the proposal that screening of PRNP mutations should be performed for the patients with dominant ataxia if dynamic mutations of SCA genes were excluded.
|
28340953 |
2017 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
To evaluate the proton magnetic resonance (MR) spectroscopy ((1) H MRS) changes in carriers of a novel octapeptide repeat insertion in the prion protein gene (PRNP) and family history of frontotemporal dementia with ataxia.
|
22612156 |
2013 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
There was a significant correlation between clinical symptoms and the neuroanatomical distribution of prion protein-immunoreactive aggregates, i.e. subtentorial predominance in ataxia vs cortical predominance in dementia.
|
22211828 |
2012 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia.
|
20514992 |
2010 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis.
|
19443103 |
2009 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Tg(A116V) mice express approximately six times the endogenous levels of PrP, develop progressive ataxia by approximately 140 d, and die by approximately 170 d. Compared with a mouse model of transmissible Creutzfeldt-Jakob disease (CJD), the ataxia of Tg(A116V) mice is more prominent, and the course of disease is more protracted, paralleling that observed in human disease.
|
19675240 |
2009 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Prion protein-like protein/doppel is neurotoxic, causing ataxia and Purkinje cell degeneration in mice, whereas prion protein antagonizes doppel-induced neurodegeneration.
|
18562311 |
2008 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, the screening for the P102L mutation, or even the sequencing of the PRNP gene should be taken in consideration in patients with late-onset ataxia (>50 years).
|
18566986 |
2008 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Recent studies have revealed that accumulation of prion protein (PrP) in the cytoplasm results in the production of aggregates that are insoluble in non-ionic detergents and partially resistant to proteinase K. Transgenic mice expressing PrP in the cytoplasm develop severe ataxia with cerebellar degeneration and gliosis, suggesting that cytoplasmic PrP may play a role in the pathogenesis of prion diseases.
|
16696854 |
2006 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Recently, the murine PrP-like protein doppel (Dpl) was described and was shown to be overexpressed in certain strains of PrP knockout mice and to cause neurological diseases such as ataxia and Purkinje cell loss.
|
11702213 |
2001 |
|
Ataxia
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Unexpectedly, transgenic mice expressing PrP with specific amino-proximal truncations spontaneously develop a neurologic syndrome presenting with ataxia and cerebellar lesions.
|
9804380 |
1998 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
GSS and PrP-CAA are associated with point mutations of the prion protein gene (PRNP); these conditions show a broad spectrum of clinical presentation, the main signs being ataxia, spastic paraparesis, extrapyramidal signs and dementia.
|
8737929 |
1996 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
This variant GSS with codon 105 mutation has been found in four pedigrees, only in Japan up to the present, and the clinicopathological phenotype is summarized as follows: (1) onset at age 38-48, with a duration of 7-11 years, (2) prominent spastic paraparesis, associated with dementia and ataxia, (3) numerous amyloid plaques in the cerebral cortex, (4) amorphous PrP deposits with neuronal loss in the deep cortical layers, and (5) minor change of cerebellum.
|
7699395 |
1994 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mice containing murine prion protein transgenes with this mutation spontaneously develop neurologic symptoms of ataxia, lethargy, and rigidity accompanied by spongiform degeneration throughout the brain.
|
1685324 |
1991 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|