Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature (Q35904463)

11 August 2017

title

Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature (English)

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11 August 2017

main subject

parkinsonian syndrome

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6

Matthis Synofzik

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Daniela Berg

5

object named as

Daniela Berg

2 references

11 August 2017

ORCID Public Data File 2021

author name string

Carlo Wilke

1

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11 August 2017

Jörn K Pomper

2

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11 August 2017

Saskia Biskup

3

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11 August 2017

Cornelia Puskás

4

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11 August 2017

language of work or name

1 reference

25 January 2016

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11 August 2017

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11 August 2017

volume

263

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11 August 2017

issue

3

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11 August 2017

page(s)

558-574

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

11 August 2017

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1 reference

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

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Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

21 January 2018

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Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

21 January 2018

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C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

21 January 2018

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Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

21 January 2018

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Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

21 January 2018

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C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

21 January 2018

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

21 January 2018

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

21 January 2018

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Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop

21 January 2018

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Disorders of higher gaze control

21 January 2018

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The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment

21 January 2018

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Differential diagnostic value of eye movement recording in PSP-parkinsonism, Richardson's syndrome, and idiopathic Parkinson's disease

21 January 2018

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Dynamic properties of horizontal and vertical eye movements in parkinsonian syndromes.

21 January 2018

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21 January 2018

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Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism

21 January 2018

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Cognitive and behavioral features of c9FTD/ALS

21 January 2018

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Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

21 January 2018

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Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.

21 January 2018

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Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

21 January 2018

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Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation

21 January 2018

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Psychosis, C9ORF72 and dementia with Lewy bodies

21 January 2018

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Investigation of c9orf72 in 4 neurodegenerative disorders

21 January 2018

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Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

21 January 2018

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Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment.

21 January 2018

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C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

21 January 2018

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Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

21 January 2018

1 reference

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Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling

21 January 2018

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Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

21 January 2018

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Efficacy of subthalamic nucleus stimulation in C9ORF72 expansion related parkinsonism.

21 January 2018

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C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

21 January 2018

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C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population

21 January 2018

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Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

21 January 2018

1 reference

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Clinicopathological Study of Patients With C9ORF72-Associated Frontotemporal Dementia Presenting With Delusions

21 January 2018

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Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

21 January 2018

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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

21 January 2018

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The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

21 January 2018

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Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

21 January 2018

1 reference

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C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome

21 January 2018

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Neuropsychological and clinical heterogeneity of cognitive impairment and dementia in patients with Parkinson's disease

21 January 2018

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Cognitive profile of patients with newly diagnosed Parkinson disease.

21 January 2018

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Cognitive bedside assessment in atypical parkinsonian syndromes.

21 January 2018

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The Addenbrooke's Cognitive Examination for the differential diagnosis and longitudinal assessment of patients with parkinsonian disorders

21 January 2018

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Suicide attempt as the presenting symptom of C9orf72 dementia

21 January 2018

1 reference

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Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile

21 January 2018

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Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

21 January 2018

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Abnormal vestibuloocular reflex cancellation in multiple system atrophy and progressive supranuclear palsy but not in Parkinson's disease

21 January 2018

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12 December 2020

Measurement of the midbrain diameter on routine magnetic resonance imaging: a simple and accurate method of differentiating between Parkinson disease and progressive supranuclear palsy

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12 December 2020

Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics

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12 December 2020

The ocular motor defects in progressive supranuclear palsy

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12 December 2020

Mutation analysis of C9orf72 in patients with corticobasal syndrome.

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12 December 2020

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

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12 December 2020

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing

1 reference

12 December 2020

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

1 reference

12 December 2020

Left hand dystonia as a recurring feature of a family carrying C9ORF72 mutation.

1 reference

12 December 2020

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

1 reference

12 December 2020

10.1007/S00415-016-8021-7

Identifiers

DOI

1 reference

11 August 2017

1 reference