A Novel Variant in <scp><i>SQSTM1</i></scp> Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family-Reference-Cited by-同舟云学术

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A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

Published:2024-03-26 Issue:6 Volume:11 Page:746-748
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Chacaltana‐Vinas Cesar¹^ORCID,Ramirez‐Pajares Patricia¹²,Manrique‐Palomino Alid¹,Clause Amanda R.³,Chawla Aditi³,Thorpe Erin³,Taft Ryan³,Rivera‐Valdivia Andrea¹⁴,Sarapura‐Castro Elison¹⁴^ORCID,Bazalar‐Montoya Jeny¹⁵,Cornejo‐Olivas Mario¹⁴^ORCID

Affiliation:

1. Neurogenetics Research Center Instituto Nacional de Ciencias Neurológicas Lima Peru

2. Unidad Funcional de Genética y Biología Molecular Instituto Nacional de Enfermedades Neoplásicas Lima Peru

3. Illumina, Inc. San Diego California USA

4. Neurogenetics Working Group Universidad Científica del Sur Lima Peru

5. School of Public Health and Administration Universidad Peruana Cayetano Heredia Lima Peru

Publisher

Wiley

Reference11 articles.

1. SQSTM1 mutation: Description of the first Tunisian case and literature review

2. Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement

3. First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy

4. Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (NADGP) Syndrome with Nocturnal Paroxysmal Head Tremor

5. SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

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