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

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Journal of neurology - 1 Jan 2024

Higuchi Yujiro, Ando Masahiro, Kojima Fumikazu, Yuan Junhui, Hashiguchi Akihiro, Yoshimura Akiko, Hiramatsu Yu, Nozuma Satoshi, Fukumura Shinobu, Yahikozawa Hiroyuki, Abe Erika, Toyoshima Itaru, Sugawara Masashiro, Okamoto Yuji, Matsuura Eiji, Takashima Hiroshi

Abstract excerpt

BACKGROUND AND OBJECTIVE: Biallelic mutations in the COA7 gene have been associated with spinocerebellar ataxia with axonal neuropathy type 3 (SCAN3), and a notable clinical diversity has been observed. We aim to identify the genetic and phenotypic spectrum of COA7-related disorders. METHODS: We conducted comprehensive genetic analyses on the COA7 gene within a large group of Japanese patients clinically...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Ataxia
Share to Dystonia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonic Disorders

Share to Levodopa

Share to Mutation

Share to Parkinsonian Disorders

Share to Phenotype

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 37750949
DOI: 10.1007/s00415-023-11998-3
PMCID: PMC10769979

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

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.PMID 37750949Read ↗

Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.Semantic proximity Read ↗

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.Semantic proximity Read ↗

A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3.Semantic proximity Read ↗

Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.Semantic proximity Read ↗

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.Semantic proximity Read ↗

ATP1A3-related disorders: An update.Semantic proximity Read ↗

Clinical genetics of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.Semantic proximity Read ↗

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.Semantic proximity Read ↗

A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.Semantic proximity Read ↗

Neurodevelopmental Gene‐Related Dystonia‐Parkinsonism with Onset in Adults: A Case with NAA15 VariantSemantic proximity Read ↗

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).Semantic proximity Read ↗

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