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Article

SPG11 presenting with dystonic tremor in childhood.

Parkinsonism & related disorders - 1 Jun 2022

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

Abstract excerpt

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.

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Source

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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