Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.

Parkinsonism & related disorders - 1 Nov 2020

Carneiro Fábio, Saracino Dario, Huin Vincent, Clot Fabienne, Delorme Cécile, Méneret Aurélie, Thobois Stéphane, Cormier Florence, Corvol Jean Christophe, Lenglet Timothée, Vidailhet Marie, Habert Marie-Odile, Gabelle Audrey, Beaufils Émilie, Mondon Karl, Tir Mélissa, Andriuta Daniela, Brice Alexis, Deramecourt Vincent, Le Ber Isabelle

Abstract excerpt

INTRODUCTION: A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic causes of frontotemporal dementia (FTD). It still remains controversial if this association is fortuitous or not, and which clinical clues could reliably suggest a genetic FTD etiology in IPD patients. This study aims to describe the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cognitive Dysfunction

Share to Frontotemporal Dementia

Share to Parkinson Disease

Share to Parkinsonian Disorders

Share to Pedigree

Share to Progranulins

Source

Identifiers

PMID: 32961397
DOI: 10.1016/j.parkreldis.2020.09.019

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.PMID 32961397Read ↗

Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.Semantic proximity Read ↗

C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the LiteratureSemantic proximity Read ↗

"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.Semantic proximity Read ↗

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

Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond.Semantic proximity Read ↗

Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72: A Case Report.Semantic proximity Read ↗

Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations.Semantic proximity Read ↗

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.Semantic proximity Read ↗

Genetic heterogeneity of early onset Parkinson disease: The dilemma of clinico-genetic correlation.Semantic proximity Read ↗

Phenotypic Features of Isolated Essential Tremor, Essential Tremor Plus, and Essential Tremor-Parkinson's Disease in a Movement Disorders Clinic.Semantic proximity Read ↗

Clinical, neuropathological, and genetic characteristics of the novel IVS9+1delG GRN mutation in a patient with frontotemporal dementia.Semantic proximity Read ↗

Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.