Related Experiment Video
Updated: Jan 30, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations
Carlos Zúñiga-Ramírez1, Lais Machado de Oliveira2, Mirelle Kramis-Hollands3
1Movement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.
Background:
Homozygous sequestomosome-1 gene mutations have been recently linked to neurodegeneration with dystonia, ataxia and gaze palsy. Seven affected families were identified thus far.
Objective:
To describe four new cases with additional phenotypical features.
Results:
Four affected patients from two unrelated families were identified. Two compound heterozygous variants of the gene (c.257_259delins35 and c.301+1G > T) were found in one family (cases 1 and 2), and homozygous c.823_824delAG variant was identified in cases 3 and 4. In addition to the previously described syndrome characterized by cerebellar ataxia, dystonia, choreoathetosis, cognitive impairment and gaze palsy, two subjects presented with iridoplegia. Furthermore, we report dysautonomic features such as orthostatic hypotension and sudomotor dysfunction, along with other non-motor symptoms.
Conclusions:
We expand the phenotype of dystonia caused by Sequestomosome-1 gene by identifying dysautonomic features along with other non-motor symptoms.
More Related Videos
10:05Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia
Published on: January 27, 2018
10:41Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
Related Concept Videos
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Viral Mutations
Mutation, Gene Flow, and Genetic Drift
Mutations in Microorganisms
Point and Frameshift Mutations