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

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.

Journal of neurology - 1 Sept 2020

Osmanovic Alma, Widjaja Maylin, Förster Alisa, Weder Julia, Wattjes Mike P, Lange Inken, Sarikidi Anastasia, Auber Bernd, Raab Peter, Christians Anne, Preller Matthias, Petri Susanne, Weber Ruthild G

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP) are motor neuron diseases sharing clinical, pathological, and genetic similarities. While biallelic SPG7 mutations are known to cause recessively inherited HSP, heterozygous SPG7 mutations have repeatedly been identified in HSP and recently also in ALS cases. However, the frequency and clinical impact of rare SPG7 variants have not been...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to Amyotrophic Lateral Sclerosis Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATPases Associated with Diverse Cellular Activities

Share to Hereditary Neurological Disorders

Share to Metalloendopeptidases

Share to Mutation

Share to Neurological diseases and metabolism

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 32447552
DOI: 10.1007/s00415-020-09861-w
PMCID: PMC7419373

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.PMID 32447552Read ↗

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.Semantic proximity Read ↗

Evidence for non-Mendelian inheritance in spastic paraplegia 7Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.Semantic proximity Read ↗

The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.Semantic proximity Read ↗

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.Semantic proximity Read ↗

An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.Semantic proximity Read ↗

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.Semantic proximity Read ↗

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic VariantsSemantic proximity Read ↗

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

Digenic inheritance of mutations in <i>SPG7</i> and <i>AFG3L2</i> causes motor neuron and cerebellar disordersSemantic proximity Read ↗

The genetics of amyotrophic lateral sclerosis: current insightsSemantic proximity Read ↗

Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.Semantic proximity Read ↗

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