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

doi:10.1007/s10072-018-3526-8

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

Community

Back to search

Article

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2018

Helal Mayada, Mazaheri Neda, Shalbafan Bita, Malamiri Reza Azizi, Dilaver Nafi, Buchert Rebecca, Mohammadiasl Javad, Golchin Neda, Sedaghat Alireza, Mehrjardi Mohammad Yahya Vahidi, Haack Tobias B, Riess Olaf, Chung Wendy K, Galehdari Hamid, Shariati Gholamreza, Maroofian Reza

Abstract excerpt

Biallelic mutations of the alsin Rho guanine nucleotide exchange factor (ALS2) gene cause a group of overlapping autosomal recessive neurodegenerative disorders including infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primary lateral sclerosis (JPLS), and juvenile amyotrophic lateral sclerosis (JALS/ALS2), caused by retrograde degeneration of the upper motor neurons of the pyramidal...

Read the complete abstract on PubMed

Topics

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

Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to Family Health

Share to Guanine Nucleotide Exchange Factors

Share to Iran

Share to Spastic Paraplegia, Hereditary

Share to Young Adult

Source

Open in PubMed

Identifiers

PMID: 30128655
DOI: 10.1007/s10072-018-3526-8

Genes

ALS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.PMID 30128655Read ↗

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

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.Semantic proximity Read ↗

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

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

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

A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysisSemantic proximity Read ↗

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.Semantic proximity Read ↗

Infantile Ascending Hereditary Spastic Paralysis with Extrapyramidal and Extraocular Manifestations Associated with a Novel ALS2 MutationSemantic proximity Read ↗

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.Semantic proximity Read ↗

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.Semantic proximity Read ↗

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