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Article

The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.

Brain : a journal of neurology - 1 Mar 2023

Rattay Tim W, Völker Maximilian, Rautenberg Maren, Kessler Christoph, Wurster Isabel, Winter Natalie, Haack Tobias B, Lindig Tobias, Hengel Holger, Synofzik Matthis, Schüle Rebecca, Martus Peter, Schöls Ludger

Abstract excerpt

This cohort study aimed to characterize the prodromal phase of hereditary spastic paraplegia type 4 (SPG4) using biomarkers and clinical signs and symptoms that develop before manifest gait abnormalities. Fifty-six first-degree relatives at risk of developing SPG4 underwent blinded genotyping and standardized phenotyping, including the Spastic Paraplegia Rating Scale (SPRS), complicating symptoms, non-motor...

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Identifiers

PMID: 35472722
DOI: 10.1093/brain/awac155

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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