SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

PubWeight™: 1.58‹?› | Rank: Top 4%

🔗 View Article (PMC 3969760)

Published in Neurogenetics on October 18, 2013

Authors

Matt Baker1, Audrey J Strongosky, Monica Y Sanchez-Contreras, Shan Yang, Will Ferguson, Donald B Calne, Susan Calne, A Jon Stoessl, Judith E Allanson, Daniel F Broderick, Michael L Hutton, Dennis W Dickson, Owen A Ross, Zbigniew K Wszolek, Rosa Rademakers

Author Affiliations

1: Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

Articles cited by this

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science (2009) 21.24

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet (2012) 3.34

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet (2009) 2.73

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet (2013) 2.62

The significance of the incidental finding of basal ganglia calcification on computed tomography. J Neurol Neurosurg Psychiatry (1981) 2.30

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet (1999) 2.30

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics (2013) 2.11

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology (2012) 2.05

Heredofamilial brain calcinosis syndrome. Mayo Clin Proc (2005) 1.54

The monogenic primary dystonias. Brain (2009) 1.42

Severe vascular disturbance in a case of familial brain calcinosis. Acta Neuropathol (2005) 1.38

Autosomal dominant dystonia-plus with cerebral calcifications. Neurology (2006) 1.27

Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation. J Neurol (2009) 1.20

Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. Am J Med Genet B Neuropsychiatr Genet (2010) 1.20

Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification. PLoS One (2013) 1.13

Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. Eur J Neurol (2013) 1.11

Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. Hum Genet (2001) 1.11

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. Mov Disord (2010) 1.08

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat (2011) 1.08

Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. Gene (2013) 1.07

What is the psychiatric significance of bilateral basal ganglia mineralization? Biol Psychiatry (1991) 1.04

2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. J Mol Neurosci (2009) 1.03

Dystonia and calcification of the basal ganglia. Neurology (1985) 0.91

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. Brain (2010) 0.90

Overview of primary monogenic dystonia. Parkinsonism Relat Disord (2012) 0.84

Articles by these authors

Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15

Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron (2004) 14.35

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature (2006) 11.59

TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35

Covariation in frequencies of substitution, deletion, transposition, and recombination during eutherian evolution. Genome Res (2003) 11.12

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07

Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature (2006) 9.31

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol (2007) 8.10

novoSNP, a novel computational tool for sequence variation discovery. Genome Res (2005) 7.42

Clinical diagnostic criteria for dementia associated with Parkinson's disease. Mov Disord (2007) 6.92

GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron (2007) 6.88

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol (2008) 6.76

A double-blind controlled trial of bilateral fetal nigral transplantation in Parkinson's disease. Ann Neurol (2003) 6.21

Neuropathologic features of amnestic mild cognitive impairment. Arch Neurol (2006) 6.20

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach. Acta Neuropathol (2011) 6.00

TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol (2007) 5.98

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron (2013) 5.91

Distinguishing regulatory DNA from neutral sites. Genome Res (2003) 5.63

TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol (2008) 5.58

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52

Randomized controlled trial of intraputamenal glial cell line-derived neurotrophic factor infusion in Parkinson disease. Ann Neurol (2006) 5.49

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease. Alzheimers Dement (2012) 5.10

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet (2006) 4.80

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol (2009) 4.73

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol (2008) 4.73

Neuropathologic outcome of mild cognitive impairment following progression to clinical dementia. Arch Neurol (2006) 4.56

Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. N Engl J Med (2009) 4.45

A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain (2009) 4.40

Neuropathology of nondemented aging: presumptive evidence for preclinical Alzheimer disease. Neurobiol Aging (2009) 4.36

VPS35 mutations in Parkinson disease. Am J Hum Genet (2011) 4.16

Safety and tolerability of intraputaminal delivery of CERE-120 (adeno-associated virus serotype 2-neurturin) to patients with idiopathic Parkinson's disease: an open-label, phase I trial. Lancet Neurol (2008) 4.16

Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech. Brain (2006) 4.07

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature (2013) 4.03

Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. Nat Genet (2009) 4.00

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol (2010) 3.92

DCTN1 mutations in Perry syndrome. Nat Genet (2009) 3.87

Primary age-related tauopathy (PART): a common pathology associated with human aging. Acta Neuropathol (2014) 3.75

Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies. Am J Hum Genet (2006) 3.67

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet (2008) 3.66

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry (2010) 3.66

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proc Natl Acad Sci U S A (2009) 3.65

Neuropathologically defined subtypes of Alzheimer's disease with distinct clinical characteristics: a retrospective study. Lancet Neurol (2011) 3.63

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36

The high-affinity HSP90-CHIP complex recognizes and selectively degrades phosphorylated tau client proteins. J Clin Invest (2007) 3.35

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol (2011) 3.34

A plaque-specific antibody clears existing β-amyloid plaques in Alzheimer's disease mice. Neuron (2012) 3.32

Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet (2005) 3.29

Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain (2012) 3.08

Criteria for the diagnosis of corticobasal degeneration. Neurology (2013) 3.07

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97

A novel human disease with abnormal prion protein sensitive to protease. Ann Neurol (2008) 2.95

Slower progression of Parkinson's disease with ropinirole versus levodopa: The REAL-PET study. Ann Neurol (2003) 2.93

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet (2011) 2.76

A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors. Genome Res (2006) 2.71

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease. Acta Neuropathol (2009) 2.68

Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. Arch Neurol (2007) 2.68

A yeast functional screen predicts new candidate ALS disease genes. Proc Natl Acad Sci U S A (2011) 2.68

Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice. J Neurosci (2010) 2.60

Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. Lancet Neurol (2009) 2.60

Alzheimer disease with amygdala Lewy bodies: a distinct form of alpha-synucleinopathy. J Neuropathol Exp Neurol (2006) 2.57

Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics (2010) 2.56

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain (2006) 2.52