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

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.

Parkinsonism & related disorders - 1 Dec 2017

Huin Vincent, Strubi-Vuillaume Isabelle, Dujardin Kathy, Brion Marine, Delliaux Marie, Dellacherie Delphine, Cuvellier Jean-Christophe, Cuisset Jean-Marie, Riquet Audrey, Moreau Caroline, Defebvre Luc, Sablonnière Bernard, Devos David

Abstract excerpt

INTRODUCTION: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide details of the cognitive profile in two SCA19/22 families. METHODS: Two families displaying an autosomal-dominant form of cerebellar ataxia underwent clinical examinations and...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cognitive Dysfunction

Share to Epilepsy

Share to Parkinsonian Disorders

Share to Pedigree

Share to Spinocerebellar Degenerations

Source

Identifiers

PMID: 28947073
DOI: 10.1016/j.parkreldis.2017.09.014

Genes

KCND3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.PMID 28947073Read ↗

The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.Semantic proximity Read ↗

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.Semantic proximity Read ↗

Spinocerebellar ataxia type 19: a series of patients from Latin America. Phenotypic spectrum from early-onset to late-onset slowly progressive ataxiaSemantic proximity Read ↗

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.Semantic proximity Read ↗

Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.Semantic proximity Read ↗

The spinocerebellar ataxias.Semantic proximity Read ↗

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.Semantic proximity Read ↗

Autosomal-dominant cerebellar ataxias.Semantic proximity Read ↗

Spinocerebellar Ataxia Type 23 (SCA23): a rare cause of SCA in the AmericasSemantic proximity Read ↗

Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta- AnalysisSemantic proximity Read ↗

Mutations in KCND3 cause spinocerebellar ataxia type 22.Semantic proximity Read ↗

Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study.Semantic proximity Read ↗

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