Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.

doi:10.1136/jmedgenet-2020-107007

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

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.

Journal of medical genetics - 1 Jul 2021

Nicita Francesco, Ginevrino Monia, Travaglini Lorena, D'Arrigo Stefano, Zorzi Giovanna, Borgatti Renato, Terrone Gaetano, Catteruccia Michela, Vasco Gessica, Brankovic Vesna, Siliquini Sabrina, Romano Silvia, Veredice Chiara, Pedemonte Marina, Armando Michelina, Lettori Donatella, Stregapede Fabrizia, Bosco Luca, Sferra Antonella, Tessarollo Valeria, Romaniello Romina, Ristori Giovanni, Bertini Enrico, Valente Enza Maria, Zanni Ginevra

Abstract excerpt

BACKGROUND: Dominant and recessive variants in the KIF1A gene on chromosome 2q37.3 are associated with several phenotypes, although only three syndromes are currently listed in the OMIM classification: hereditary sensory and autonomic neuropathy type 2 and spastic paraplegia type 30, both recessively inherited, and mental retardation type 9 with dominant inheritance. METHODS: In this retrospective multicentre...

Read the complete abstract on PubMed

Topics

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

Share to Kinesins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ataxia

Share to Child

Share to Child, Preschool

Share to Heterozygote

Share to Neurodegenerative Diseases

Share to Neurodevelopmental Disorders

Share to Young Adult

Source

Open in PubMed

Identifiers

PMID: 32737135
DOI: 10.1136/jmedgenet-2020-107007

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

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.PMID 32737135Read ↗

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.Semantic proximity Read ↗

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish PatientsSemantic proximity Read ↗

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegiaSemantic proximity Read ↗

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.Semantic proximity Read ↗

Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.Semantic proximity Read ↗

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.Semantic proximity Read ↗

KIF1A mutation in a patient with progressive neurodegeneration.Semantic proximity Read ↗

Long-term clinical observation of patients with heterozygous KIF1A variants.Semantic proximity Read ↗

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.Semantic proximity Read ↗

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.Semantic proximity Read ↗

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral SclerosisSemantic proximity Read ↗

Motor protein mutations cause a new form of hereditary spastic paraplegia.Semantic proximity Read ↗

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