SPG11 presenting with dystonic tremor in childhood

Emily A Innes; Robert Goetti; Neil Mahant; Gladys Ho; Laura Williams; Deepak Gill; Russell C Dale; Shekeeb S Mohammad

doi:10.1016/j.parkreldis.2022.05.011

SPG11 presenting with dystonic tremor in childhood

Parkinsonism Relat Disord. 2022 Jun:99:76-78. doi: 10.1016/j.parkreldis.2022.05.011. Epub 2022 May 19.

Authors

Emily A Innes¹, Robert Goetti², Neil Mahant³, Gladys Ho⁴, Laura Williams³, Deepak Gill⁵, Russell C Dale⁶, Shekeeb S Mohammad⁷

Affiliations

¹ TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, NSW, Sydney, Australia; School of Medicine Sydney, The University of Notre Dame, Sydney, Australia. Electronic address: shekeeb.mohammad@health.nsw.gov.au.
² Medical Imaging, The Children's Hospital at Westmead, Australia; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW, Sydney, Australia.
³ Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, New South Wales, Australia.
⁴ Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
⁵ TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, NSW, Sydney, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, NSW, Sydney, Australia.
⁶ Kids Neuroscience Centre, The Children's Hospital at Westmead, NSW, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
⁷ TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, NSW, Sydney, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, NSW, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.

PMID: 35617747
DOI: 10.1016/j.parkreldis.2022.05.011

Abstract

This is a unique case of SPG11 mutation presenting as childhood onset dystonic tremor without weakness or spastic paraplegia. Hereditary spastic paraplegia is the most common phenotype of SPG11 mutation though there are reports of an extended phenotype of SPG11 including dopa-responsive dystonia and tremor.

Keywords: Dystonia; HSP; SPG11; Tremor.

Publication types

Case Reports

MeSH terms

Humans
Mutation / genetics
Phenotype
Proteins / genetics
Spastic Paraplegia, Hereditary* / diagnosis
Spastic Paraplegia, Hereditary* / genetics
Tremor / etiology
Tremor / genetics

Substances

Proteins
SPG11 protein, human

Supplementary concepts

Spastic paraplegia 11, autosomal recessive