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

Cognitive dysfunction and psychosis: expanding the phenotype of SPG7.

Neurocase - 1 Jun 2021

Soares Izadora Fonseca Zaiden, Ciarlariello Vinicius Boaratti, Feder David, Carvalho Alzira Alves De Siqueira

Abstract excerpt

Spastic paraplegia type 7 (SPG7) is one of the most common forms of autosomal recessive hereditary spastic paraplegia, which can lead to a hybrid spastic-ataxic phenotype. Recently, novel complicated forms of SPG7, including cognitive and social impairment phenotypes, have been reported. We present a SPG7 case with two pathogenic variants in compound heterozygosity in the SPG7 gene, featuring a cerebellar...

Read the complete abstract on PubMed

Topics

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

Share to ATPases Associated with Diverse Cellular Activities
Share to Cognitive Dysfunction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metalloendopeptidases

Share to Mutation

Share to Phenotype

Share to Psychotic Disorders

Source

Identifiers

PMID: 34003721
DOI: 10.1080/13554794.2021.1927114

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

Cognitive dysfunction and psychosis: expanding the phenotype of SPG7.PMID 34003721Read ↗

A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.Semantic proximity Read ↗

SPG7 and Impaired Emotional Communication.Semantic proximity Read ↗

Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11.Semantic proximity Read ↗

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case reportSemantic proximity Read ↗

Cerebellum and neuropsychiatric disorders: insights from ARSACS.Semantic proximity Read ↗

Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series.Semantic proximity Read ↗

Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic ParaplegiaSemantic proximity Read ↗

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.Semantic proximity Read ↗

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.Semantic proximity Read ↗

Mental deficiency in three families with SPG4 spastic paraplegia.Semantic proximity Read ↗

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.Semantic proximity Read ↗

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