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

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

Archives of neurology - 1 Feb 2006

Lo Giudice Mariangela, Neri Marcella, Falco Michele, Sturnio Maurizio, Calzolari Elisa, Di Benedetto Daniela, Fichera Marco

Abstract excerpt

BACKGROUND: To our knowledge, up to now, only 2 mutations in the KIF5A gene, a member of the kinesin superfamily, have been identified as the molecular cause of early-onset autosomal dominant hereditary spastic paraparesis (ADHSP). OBJECTIVE: To assess the genetic defect in a family with late-onset ADHSP. PATIENTS AND METHODS: Only the proband agreed to undergo complete neurological testing and mutational...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Kinesins

Share to Mutation, Missense

Share to Paraplegia

Share to Pedigree

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 16476820
DOI: 10.1001/archneur.63.2.284

Genes

NIPA1

Variants

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

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.PMID 16476820Read ↗

Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy.Semantic proximity Read ↗

SPG10 is a rare cause of spastic paraplegia in European families.Semantic proximity Read ↗

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).Semantic proximity Read ↗

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

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.Semantic proximity Read ↗

A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor SyndromeSemantic proximity Read ↗

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.Semantic proximity Read ↗

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

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

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.Semantic proximity Read ↗

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

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

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