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

The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients

5 Nov 2021

Abstract excerpt

There are three types of autosomal recessive disorders involving pathogenic variants in the ALS2 gene (OMIM*606352), infantile ascending hereditary spastic paraplegia (IAHSP), juvenile primary lateral sclerosis (JPLS) and juvenile amyotrophic lateral sclerosis (JALS), which are rare and related to retrograde degeneration of motor neurons. ALS2 pathogenic variants are distributed widely across the entire coding...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis Research
Share to Neurogenetic and Muscular Disorders Research
Share to Neurological diseases and metabolism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34738851
DOI: 10.1080/21678421.2021.1910306

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patientsPMID 34738851Read ↗

Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.Semantic proximity Read ↗

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.Semantic proximity Read ↗

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

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansionSemantic proximity Read ↗

Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohortsSemantic proximity Read ↗

ALS2-related disorders in Spanish children: a severely affected case of infantile ascending spastic paraplegia due to homozygous R704X mutation.Semantic proximity Read ↗

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.Semantic proximity Read ↗

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.Semantic proximity Read ↗

Progress in Amyotrophic Lateral Sclerosis Gene DiscoverySemantic proximity Read ↗

A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.Semantic proximity Read ↗

Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.Semantic proximity Read ↗

Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study.Semantic proximity Read ↗

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