Prion protein gene codon 129 modulates clinical course of neurological Wilson disease

@article{Grubenbecher2006PrionPG,
  title={Prion protein gene codon 129 modulates clinical course of neurological Wilson disease},
  author={Stephanie Grubenbecher and Olaf St{\"u}ve and Harald Hefter and Carsten Korth},
  journal={NeuroReport},
  year={2006},
  volume={17},
  pages={549-552}
}
The polymorphism in the human prion protein gene at codon 129 (PRNP 129) determines susceptibility to prion disease, and has been associated with early onset and a more severe course of other neurodegenerative disorders. Here, we tested the hypothesis that PRNP is a disease-modifying gene in clinical Wilson disease with a neurological phenotype. Allele frequencies in patients with clinical Wilson disease were not different from those of a healthy German control population, and PRNP 129… 

Genetic polymorphism at codon 129 of the prion protein gene is not associated with multiple sclerosis.

It is concluded that an SNP in Prnp129 plays no major role in MS susceptibility, and the role of other unlinked polymorphisms or the potential role of PrNP129 in the progression of neuroradiologic or cognitive endpoints of MS cannot be excluded.

No association between genetic polymorphism at codon 129 of the prion protein gene and primary progressive multiple sclerosis.

The results of this association analysis do not suggest the role of an SNP in Prnp129 in PPMS susceptibility, but these results may be consistent with recent pathological studies that suggested a strong association between inflammation and neurodegeneration in progressive MS.

No TARDBP mutations in a French Canadian population of patients with Parkinson disease.

This review concludes that the prion protein gene codon 129 modulates clinical course of neurological Wilson disease and is associated with cognitive impairment in the elderly: the EVA study.

The current Status and New Advances in Diagnosis and Treatment of Wilson Disease

D diagnosis is based on the combination of clinical features and findings such as increased urinary copper excretion, reduced levels of serum ceruloplasmin, high concentrations of copper in liver tissues and Kayser–Fleischer rings, biochemical and immunological markers, magnetic resonance imaging, and neuropathological study.

The prion protein M129V polymorphism

The first study of the M129V polymorphism among Polish centenarians finds both homozygotes were more common than expected and HWE was rejected, consistent with a higher mortality rate among heterozygotes, and the genotypic frequencies were not related to severe cognitive impairment among the centenarian.

Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration

It is proposed that synergism may occur between at least some allelic variants of ATP7B and PRNP, possibly exerted through effects on cellular copper metabolism.

Clinical Features of Rapidly Progressive Alzheimer’s Disease

Objective: To characterize clinical features, CSF biomarkers and genetic polymorphisms of patients suffering from a rapidly progressing subtype of Alzheimer’s dementia (rpAD). Methods: Retrospective

Neurological manifestations and ATP7B mutations in Wilson's disease.

Wilson's Disease.

Lifelong palliative treatment with a growing stable of medications, or with liver transplantation if needed, can successfully ameliorate or prevent the progressive deterioration and eventual death that would otherwise inevitably ensue in Wilson's disease.

Polymorphism of the prion protein gene PRNP and risk of multiple sclerosis development in ethnic Russians from Bashkortostan

It was shown that in the group of MS patients with onset of the disease at the age of 21 and older, the frequency of the VV genotype was higher than in the control group (14.3% versus 6.18%, respectively, P = 0.041), and it is suggested that the Vv genotype is associated with higher risk factor of MS development in the patients aged 21 years and older.

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