Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation

Paucar, Martin; Xiang, Fengqing; Moore, Richard C.; Walker, Ruth H.; Winnberg, Elisabeth; Svenningsson, Per

doi:10.4161/pri.27260

Cited by 18 publications

(10 citation statements)

References 33 publications

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“…The (88,90,174). Anticipation has been suggested in IPD with 8-OPRI but the small sample size did not allow a definitive conclusion (88,170). Anticipation was also proposed to occur in connection with the E200K mutation (175), but this was questioned in a larger study (176).…”

Section: The Impact Of Polymorphism In Codon 129 In Ipd With 8-opri (mentioning

confidence: 99%

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients

Machaczka

Paucar

Björkvall

et al. 2018

Blood Cells, Molecules, and Diseases

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Section: The Impact Of Polymorphism In Codon 129 In Ipd With 8-opri (mentioning

confidence: 99%

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients

Machaczka

Paucar

Björkvall

et al. 2018

Blood Cells, Molecules, and Diseases

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“…In HDL1/inherited prion diseases, generalized brain and cerebellar atrophy occurs in both 6-OPRI and 8-OPRI but these findings are not specific [ 49 – 51 ]. This is in contrast to sporadic and variant CJD for which neuroimaging can be a supportive tool for the diagnosis [ 52 ].…”

Section: Magnetic Resonance Imagingmentioning

confidence: 99%

Novel Imaging Biomarkers for Huntington’s Disease and Other Hereditary Choreas

Fazio

Paucar

Svenningsson

et al. 2018

Curr Neurol Neurosci Rep

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Purpose of the ReviewImaging biomarkers for neurodegenerative disorders are primarily developed with the goal to aid diagnosis, to monitor disease progression, and to assess the efficacy of disease-modifying therapies in support to clinical outcomes that may either show limited sensitivity or need extended time for their evaluation. This article will review the most recent concepts and findings in the field of neuroimaging applied to Huntington’s disease and Huntington-like syndromes. Emphasis will be given to the discussion of potential pharmacodynamic biomarkers for clinical trials in Huntington’s disease (HD) and of neuroimaging tools that can be used as diagnostic biomarkers in HD-like syndromes.Recent FindingsSeveral magnetic resonance (MR) and positron emission tomography (PET) molecular imaging tools have been identified as potential pharmacodynamic biomarkers and others are in the pipeline after preclinical validation. MRI and 18F-fluorodeoxyglucose PET can be considered useful supportive diagnostic tools for the differentiation of other HD-like syndromes.SummaryNew trials in HD have the primary goal to lower mutant huntingtin (mHTT) protein levels in the brain in order to reduce or alter the progression of the disease. MR and PET molecular imaging markers have been developed as tools to monitor disease progression and to evaluate treatment outcomes of disease-modifying trials in HD. These markers could be used alone or in combination for detecting structural and pharmacodynamic changes potentially associated with the lowering of mHTT.

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“…Initially, it was described in a family with autosomal dominant personality change, dementia, and chorea; however, the phenotype can vary within the same family (for review, see [35,54]). …”

Section: Huntington's Disease-likementioning

confidence: 99%

Diagnosis and Treatment of Chorea Syndromes

Hermann

Walker

2015

Curr Neurol Neurosci Rep

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Chorea is a common movement disorder which can be caused by a large variety of diseases including neurodegenerative diseases, metabolic diseases, and autoimmune diseases, or can be secondary to structural changes. The basal ganglia seem to be mainly involved in the pathophysiology indicating the vulnerability of this region. The diagnosis can be challenging, especially if chorea occurs during the treatment of neuropsychiatric conditions, and in these cases, it is difficult to distinguish between medication side effects (i.e., tardive dyskinesia) and the development of a neurodegenerative disease. Most therapeutic approaches are predominantly symptomatic, with a focus on multidisciplinary care for many patients. Nevertheless, some underlying diseases can be successfully treated and must not be missed. In this review, we summarize recent new developments in the differential diagnosis of chorea syndromes and suggest a pathway for a successful diagnosis of chorea in infancy, childhood, and adulthood for daily practice.

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Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation

Cited by 18 publications

References 33 publications

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients

Novel Imaging Biomarkers for Huntington’s Disease and Other Hereditary Choreas

Diagnosis and Treatment of Chorea Syndromes

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