Cognitive Impairment, Ataxia, Dystonia, and Gaze Palsy Due to a Novel Variant in SQSTM1: New Lessons

Mov Disord. 2024 Feb;39(2):445-447. doi: 10.1002/mds.29684. Epub 2024 Jan 26.

Authors

Divyani Garg¹, Himanshi Kapoor², Istaq Ahmad¹, Divya Goel^{3

4}, Sana Zahra², Pooja Sharma², Achal Kumar Srivastava¹, Mohammed Faruq^{3

4}

Affiliations

¹ Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
² Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
³ Division of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (IGIB), New Delhi, India.
⁴ Department of Pharmacology, School of Pharmaceutical Education & Research (SPER), New Delhi, India.

PMID: 38279634
DOI: 10.1002/mds.29684

No abstract available

Publication types

Letter

MeSH terms

Ataxia / complications
Cerebellar Ataxia*
Cognitive Dysfunction*
Dystonia*
Dystonic Disorders*
Humans
Paralysis
Sequestosome-1 Protein

Substances

Sequestosome-1 Protein
SQSTM1 protein, human