Discover Community Create You

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

A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

Journal of Alzheimer's disease : JAD - 1 Jan 2015

Boutoleau-Bretonnière Claire, Camuzat Agnès, Le Ber Isabelle, Bouya-Ahmed Kawtar, Guerreiro Rita, Deruet Anne-Laure, Evrard Christelle, Bras José, Lamy Estelle, Auffray-Calvier Elisabeth, Pallardy Amandine, Hardy John, Brice Alexis, Derkinderen Pascal, Vercelletto Martine

Abstract excerpt

SQSTM1 mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. More recently, SQSTM1 mutations were identified in few families with frontotemporal dementia. We report a new family carrying SQSTM1 mutation and presenting with a clinical phenotype of speech apraxia or atypical behavioral disorders, associated with early...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Apraxias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Magnetic Resonance Imaging

Share to Neuropsychological Tests

Share to Sequestosome-1 Protein

Share to Speech Disorders

Share to Tomography, Emission-Computed, Single-Photon

Source

Open in PubMed Open full text

Identifiers

PMID: 25114083
DOI: 10.3233/JAD-141512
PMCID: PMC4337967

Genes

SQSTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.PMID 25114083Read ↗

Clinical phenotype of frontotemporal dementia associated with the Pro392Leu SQSTM1 mutation.Semantic proximity Read ↗

Apraxia phenotypes and frontotemporal lobar degeneration.Semantic proximity Read ↗

Atypical features including acquired oculomotor apraxia in C9orf72-associated familial primary lateral sclerosis.Semantic proximity Read ↗

Motor Speech Phenotypes of Frontotemporal Dementia, Primary Progressive Aphasia, and Progressive Apraxia of Speech.Semantic proximity Read ↗

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.Semantic proximity Read ↗

Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia.Semantic proximity Read ↗

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.Semantic proximity Read ↗

Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.Semantic proximity Read ↗

Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene.Semantic proximity Read ↗

Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.Semantic proximity Read ↗

Severe speech impairment is a distinguishing feature of FOXP1-related disorder.Semantic proximity Read ↗

A presenilin 1 R278I mutation presenting with language impairment.Semantic proximity Read ↗

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