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Article

Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia.

Orphanet journal of rare diseases - 29 Jul 2022

Utz Kathrin S, Kohl Zacharias, Marterstock Dominique Cornelius, Doerfler Arnd, Winkler Jürgen, Schmidt Manuel, Regensburger Martin

Abstract excerpt

BACKGROUND: SPG11-linked hereditary spastic paraplegia is characterized by multisystem neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive spasticity and weakness. Severe cognitive symptoms are present in the majority of SPG11 patients, but a systematic and multidimensional analysis of the neuropsychological phenotype in a larger cohort is lacking. While thinning of the...

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Identifiers

PMID: 35906604
DOI: 10.1186/s13023-022-02451-1
PMCID: PMC9336101

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