Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.

PubWeight™: 0.78‹?›

🔗 View Article (PMID 23811968)

Published in J Neurol on June 29, 2013

Authors

Tobias Böttcher1, Arndt Rolfs, Bianca Meyer, Annette Grossmann, Daniela Berg, Peter Kropp, Reiner Benecke, Uwe Walter

Author Affiliations

1: Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany.

Articles cited by this

"Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res (1975) 301.74

An inventory for measuring depression. Arch Gen Psychiatry (1961) 84.61

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry (1992) 33.67

Functional bowel disorders. Gastroenterology (2006) 20.72

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med (2009) 7.53

Parkinson's disease. Lancet (2009) 6.60

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell (2011) 6.23

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet (2000) 4.12

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology (2008) 3.83

Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM (1996) 2.54

Risk factors for Parkinson's disease. Neurology (1993) 2.47

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab (2003) 2.29

Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann Neurol (2011) 2.11

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol (2008) 1.87

Value of combined midbrain sonography, olfactory and motor function assessment in the differential diagnosis of early Parkinson's disease. J Neurol Neurosurg Psychiatry (2012) 1.86

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab (2001) 1.74

Screening of olfactory function with a four-minute odor identification test: reliability, normative data, and investigations in patients with olfactory loss. Ann Otol Rhinol Laryngol (2001) 1.69

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet (2010) 1.67

The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis (2010) 1.65

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders. Acta Neuropathol (2010) 1.63

GBA-associated PD presents with nonmotor characteristics. Neurology (2011) 1.63

T1 and T2 in the brain of healthy subjects, patients with Parkinson disease, and patients with multiple system atrophy: relation to iron content. Radiology (1999) 1.52

Transcranial brain sonography findings predict disease progression in multiple sclerosis. Neurology (2009) 1.46

Echogenicity of the substantia nigra: association with increased iron content and marker for susceptibility to nigrostriatal injury. Arch Neurol (2002) 1.45

Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis (2005) 1.44

Transcranial sonography in movement disorders. Lancet Neurol (2008) 1.44

Recent clinical progress in Gaucher disease. Curr Opin Pediatr (2005) 1.33

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization. Mov Disord (2010) 1.31

Risk of Parkinson's disease among first-degree relatives: A community-based study. Neurology (1996) 1.30

Enlarged hyperechogenic substantia nigra as a risk marker for Parkinson's disease. Mov Disord (2012) 1.28

Parkinsonian signs in older people: prevalence and associations with smoking and coffee. Neurology (2003) 1.27

Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord (2012) 1.15

Greater risk of parkinsonism associated with non-N370S GBA1 mutations. J Inherit Metab Dis (2012) 0.91

Hyperechogenicity of the substantia nigra in healthy controls is related to MRI changes and to neuronal loss as determined by F-Dopa PET. Neuroimage (2009) 0.85

Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature. Mov Disord (2009) 0.85

Hyperferritinemia and iron overload in type 1 Gaucher disease. Am J Hematol (2010) 0.83

Life-long increase of substantia nigra hyperechogenicity in transcranial sonography. Neuroimage (2010) 0.83

Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations. Parkinsonism Relat Disord (2013) 0.80

Ferritinemia during type 1 Gaucher disease: mechanisms and progression under treatment. Blood Cells Mol Dis (2012) 0.79

Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. Neurology (1996) 0.79

Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease. Parkinsonism Relat Disord (2012) 0.78

Articles by these authors

Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34

Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin. J Neurosci (2007) 5.68

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27

SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol (2009) 3.55

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet (2005) 2.59

A temporally asymmetric Hebbian rule governing plasticity in the human motor cortex. J Neurophysiol (2003) 2.46

Mechanisms of enhancement of human motor cortex excitability induced by interventional paired associative stimulation. J Physiol (2002) 2.44

The specificity and sensitivity of transcranial ultrasound in the differential diagnosis of Parkinson's disease: a prospective blinded study. Lancet Neurol (2008) 2.42

Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann Neurol (2005) 2.40

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32

Effects of intranasal oxytocin on emotional face processing in women. Psychoneuroendocrinology (2010) 2.31

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet (2005) 2.28

Pallidal deep-brain stimulation in primary generalized or segmental dystonia. N Engl J Med (2006) 2.26

Olfactory dysfunction: common in later life and early warning of neurodegenerative disease. Dtsch Arztebl Int (2013) 2.22

Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression. Cell Stem Cell (2013) 2.22

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). Mol Genet Metab (2010) 2.13

Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain. FASEB J (2007) 1.94

Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial. Lancet Neurol (2012) 1.93

Value of combined midbrain sonography, olfactory and motor function assessment in the differential diagnosis of early Parkinson's disease. J Neurol Neurosurg Psychiatry (2012) 1.86

Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet (2010) 1.86

Swallowing disturbance pattern relates to brain lesion location in acute stroke patients. Stroke (2009) 1.85

Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*. Brain (2005) 1.85

Molecular analysis of HER2 signaling in human breast cancer by functional protein pathway activation mapping. Clin Cancer Res (2012) 1.74

Efficacy and safety of a single botulinum type A toxin complex treatment (Dysport) for the relief of upper back myofascial pain syndrome: results from a randomized double-blind placebo-controlled multicentre study. Pain (2006) 1.62

The neural correlates of sex differences in emotional reactivity and emotion regulation. Hum Brain Mapp (2010) 1.61

Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair. Hum Mol Genet (2009) 1.59

Progression of Parkinson's disease in the clinical phase: potential markers. Lancet Neurol (2009) 1.58

Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature. Folia Neuropathol (2012) 1.55

GBA-associated PD. Neurodegeneration, altered membrane metabolism, and lack of energy failure. Neurology (2012) 1.51

Poor effect of guideline based treatment of restless legs syndrome in clinical practice. J Neurol Neurosurg Psychiatry (2010) 1.49

SNCA: major genetic modifier of age at onset of Parkinson's disease. Mov Disord (2013) 1.48

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45

Effects of intranasal oxytocin on the neural basis of face processing in autism spectrum disorder. Biol Psychiatry (2013) 1.45

Reduced inhibition within primary motor cortex in patients with poststroke focal motor seizures. Neurology (2002) 1.45

Transcranial sonography in movement disorders. Lancet Neurol (2008) 1.44

An impaired neocortical Ih is associated with enhanced excitability and absence epilepsy. Eur J Neurosci (2004) 1.43

Prevalence of stenoses and occlusions of brain-supplying arteries in young stroke patients. Neurology (2013) 1.42

Predictors of pneumonia in acute stroke patients admitted to a neurological intensive care unit. J Neurol (2007) 1.40

Transcranial sonography as a diagnostic tool for Parkinson's disease: a pilot study in the city of Rio de Janeiro, Brazil. Arq Neuropsiquiatr (2011) 1.40

Cortical PIB binding in Lewy body disease is associated with Alzheimer-like characteristics. Neurobiol Dis (2008) 1.39

Transcranial brain parenchyma sonography in movement disorders: state of the art. Ultrasound Med Biol (2007) 1.37

Timing-dependent plasticity in human primary somatosensory cortex. J Physiol (2005) 1.35

Higher frequency of regulatory T cells in the elderly and increased suppressive activity in neurodegeneration. J Neuroimmunol (2007) 1.34

Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease. Proc Natl Acad Sci U S A (2004) 1.29

Phosphorylated α-synuclein in Parkinson's disease. Sci Transl Med (2012) 1.29

[11C]PIB binding in Parkinson's disease dementia. Neuroimage (2007) 1.24

In vivo detection of iron and neuromelanin by transcranial sonography: a new approach for early detection of substantia nigra damage. Mov Disord (2005) 1.23

Oxytocin increases amygdala reactivity to threatening scenes in females. Psychoneuroendocrinology (2012) 1.22

Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat (2004) 1.22

Cellular FLICE-inhibitory protein (cFLIP) isoforms block CD95- and TRAIL death receptor-induced gene induction irrespective of processing of caspase-8 or cFLIP in the death-inducing signaling complex. J Biol Chem (2011) 1.19

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat (2013) 1.17

Neuronal correlates of cognitive reappraisal in borderline patients with affective instability. Biol Psychiatry (2010) 1.15

Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the Stroke in Young Fabry Patients study. Stroke (2012) 1.14

Pharmacology of therapeutic botulinum toxin preparations. Disabil Rehabil (2007) 1.12

ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord (2009) 1.12

The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis (2011) 1.12

Headaches in multiple sclerosis patients might imply an inflammatorial process. PLoS One (2013) 1.11

The patients' perception of prodromal symptoms before the initial diagnosis of Parkinson's disease. Mov Disord (2011) 1.10

14-3-3 protein is a component of Lewy bodies in Parkinson's disease-mutation analysis and association studies of 14-3-3 eta. Brain Res Mol Brain Res (2002) 1.09

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol (2002) 1.09

The transcription factor PITX3 is associated with sporadic Parkinson's disease. Neurobiol Aging (2007) 1.09

A randomized, double blind, placebo-controlled trial of pioglitazone in combination with riluzole in amyotrophic lateral sclerosis. PLoS One (2012) 1.09

Parkinson's disease-like midbrain sonography abnormalities are frequent in depressive disorders. Brain (2007) 1.09

Common variants of LRRK2 are not associated with sporadic Parkinson's disease. Ann Neurol (2005) 1.08

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol (2007) 1.08

Poor trail making test performance is directly associated with altered dual task prioritization in the elderly--baseline results from the TREND study. PLoS One (2011) 1.07

S100B is increased in Parkinson's disease and ablation protects against MPTP-induced toxicity through the RAGE and TNF-α pathway. Brain (2012) 1.07

The circadian system in Alzheimer's disease: disturbances, mechanisms, and opportunities. Biol Psychiatry (2012) 1.06

Treatment of focal dystonias with botulinum neurotoxin. Toxicon (2008) 1.06

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. JIMD Rep (2015) 1.05

Synergism between Hedgehog-GLI and EGFR signaling in Hedgehog-responsive human medulloblastoma cells induces downregulation of canonical Hedgehog-target genes and stabilized expression of GLI1. PLoS One (2013) 1.04

Biomarker candidates of neurodegeneration in Parkinson's disease for the evaluation of disease-modifying therapeutics. J Neural Transm (Vienna) (2011) 1.04

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. J Neurol (2013) 1.04

Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease. Circ Cardiovasc Genet (2014) 1.03

Osteopontin is elevated in Parkinson's disease and its absence leads to reduced neurodegeneration in the MPTP model. Neurobiol Dis (2006) 1.03

Pallidal deep brain stimulation improves quality of life in segmental and generalized dystonia: results from a prospective, randomized sham-controlled trial. Mov Disord (2008) 1.03

Specification of 14-3-3 proteins in Lewy bodies. Ann Neurol (2003) 1.02

Loss of nocturnal blood pressure fall in various extrapyramidal syndromes. Mov Disord (2009) 1.02

Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17). Neuroimage (2012) 1.01

Small molecule GSK-3 inhibitors increase neurogenesis of human neural progenitor cells. Neurosci Lett (2010) 1.01

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS Genet (2013) 1.00

Functional relevance of ceruloplasmin mutations in Parkinson's disease. FASEB J (2005) 1.00

Multiregional brain iron deficiency in restless legs syndrome. Mov Disord (2008) 1.00

Protection of neurons derived from human neural progenitor cells by veratridine. Neuroreport (2009) 1.00

Maltose and maltodextrin utilization by Listeria monocytogenes depend on an inducible ABC transporter which is repressed by glucose. PLoS One (2010) 1.00

2-DE proteome analysis of a proliferating and differentiating human neuronal stem cell line (ReNcell VM). Proteomics (2006) 1.00

LINGO1 is not associated with Parkinson's disease in German patients. Am J Med Genet B Neuropsychiatr Genet (2010) 0.99

GBA-associated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study. Mov Disord (2014) 0.99

The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study. Graefes Arch Clin Exp Ophthalmol (2008) 0.99

Signalling networks associated with urokinase-type plasminogen activator (uPA) and its inhibitor PAI-1 in breast cancer tissues: new insights from protein microarray analysis. J Pathol (2010) 0.99

Substantia nigra hypoechogenicity: definition and findings in restless legs syndrome. Mov Disord (2007) 0.99

Design and validation of a metabolic disorder resequencing microarray (BRUM1). Hum Mutat (2010) 0.98

Effect of 3D-scaffold formation on differentiation and survival in human neural progenitor cells. Biomed Eng Online (2010) 0.98

Combining testing methods. Dtsch Arztebl Int (2013) 0.98