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

Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.

Neurogenetics - 1 Jan 2020

Palvadeau R, Kaya-Güleç Z E, Şimşir G, Vural A, Öztop-Çakmak Ö, Genç G, Aygün M S, Falay O, Başak A Nazlı, Ertan S

Abstract excerpt

SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female patient with...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Cognitive Dysfunction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Family

Share to Spinocerebellar Ataxias

Share to Turkey

Share to Ubiquitin-Protein Ligases

Share to White Matter

Source

Identifiers

PMID: 31741143
DOI: 10.1007/s10048-019-00595-0

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

Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.PMID 31741143Read ↗

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian familiesSemantic proximity Read ↗

Spinocerebellar ataxia type 48: last but not least.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 ↗

Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan.Semantic proximity Read ↗

Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease.Semantic proximity Read ↗

Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of viewSemantic proximity Read ↗

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

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.Semantic proximity Read ↗

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.Semantic proximity Read ↗

[Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient].Semantic proximity Read ↗

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

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxiaSemantic proximity Read ↗

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