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

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

Brain : a journal of neurology - 1 Feb 2010

Orlacchio Antonio, Babalini Carla, Borreca Antonella, Patrono Clarice, Massa Roberto, Basaran Sarenur, Munhoz Renato P, Rogaeva Ekaterina A, St George-Hyslop Peter H, Bernardi Giorgio, Kawarai Toshitaka

Abstract excerpt

The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate...

Read the complete abstract on PubMed

Topics

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

Share to Age Factors
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amyotrophic Lateral Sclerosis Research

Share to Genes, Recessive

Share to Hereditary Neurological Disorders

Share to Mutation

Share to Pedigree

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 20110243
DOI: 10.1093/brain/awp325
PMCID: PMC2822627

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20110243-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.PMID 20110243Read ↗

Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.Semantic proximity Read ↗

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.Semantic proximity Read ↗

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.Semantic proximity Read ↗

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.Semantic proximity Read ↗

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.Semantic proximity Read ↗

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.Semantic proximity Read ↗

Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopmentSemantic proximity Read ↗

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.Semantic proximity Read ↗

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.Semantic proximity Read ↗

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

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