Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

doi:10.1093/brain/awq181

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Article

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Brain : a journal of neurology - 1 Aug 2010

Assoum Mirna, Salih Mustafa A, Drouot Nathalie, H'Mida-Ben Brahim Dorra, Lagier-Tourenne Clotilde, AlDrees Abdulmajeed, Elmalik Salah A, Ahmed Taha S, Seidahmed Mohammad Z, Kabiraj Mohammad M, Koenig Michel

Abstract excerpt

We have identified a novel form of recessive ataxia that segregates in three children of a large consanguineous Saudi Arabian family. The three patients presented with childhood onset gait and limb ataxia, dysarthria and had limited walking without aid into their teenage years. Two patients developed epilepsy at 7 months without relapse after treatment, and mental retardation. Linkage studies allowed us to...

Topics

Adolescent
Ataxia
Autophagy-Related Proteins
Base Sequence
Brain
Chromosome Mapping
Consanguinity
DNA Mutational Analysis
Family
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Frameshift Mutation

Humans

Intracellular Signaling Peptides and Proteins

Microsatellite Repeats

Pedigree

Point Mutation

Polymorphism, Single Nucleotide

Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 20826435
DOI: 10.1093/brain/awq181

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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