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Article

Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants.

Journal of human genetics - 1 Jan 2026

Watanabe Tomoaki, Kume Kodai, Inoue Ken, Nakamura Masataka, Yamamoto Shinji, Kurashige Takashi, Ohshita Tomohiko, Tazuma Taku, Kaido Misako, Maetani Yuta, Maruyama Hirofumi, Kawakami Hideshi

Abstract excerpt

Spinocerebellar degeneration (SCD) is a clinically and genetically diverse group, and the dominant form of SCD (AD-SCD) is generally referred to as spinocerebellar ataxia (SCA) that primarily affects the cerebellum. Some patients do not have a definitive genetic diagnosis but may carry unknown variants of known causative genes. Here, we screened for known SCA-associated genes in patients with suspected SCA. We...

Read the complete abstract on PubMed

Topics

Humans
Exome Sequencing
Spinocerebellar Ataxias
Male
Female
Middle Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Adult

Membrane Proteins

Aged

Receptors, Metabotropic Glutamate

Japan

Fatty Acid Elongases

Eye Proteins

East Asian People

Source

Open in PubMed Open full text

Identifiers

PMID: 40940404
DOI: 10.1038/s10038-025-01405-2
PMCID: PMC12689424

Genes

ELOVL4
SCD
ELOVL5
GRM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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