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Article

Widespread white matter and conduction defects in PSEN1-related spastic paraparesis.

Neurobiology of aging - 1 Nov 2016

Soosman Steffan K, Joseph-Mathurin Nelly, Braskie Meredith N, Bordelon Yvette M, Wharton David, Casado Maria, Coppola Giovanni, McCallum Holly, Nuwer Marc, Coutin-Churchman Pedro, Apostolova Liana G, Benzinger Tammie, Ringman John M

Abstract excerpt

The mechanisms underlying presenilin 1 (PSEN1) mutation-associated spastic paraparesis (SP) are not clear. We compared diffusion and volumetric magnetic resonance measures between 3 persons with SP associated with the A431E mutation and 7 symptomatic persons with PSEN1 mutations without SP matched for symptom duration. We performed amyloid imaging and central motor and somatosensory conduction studies in 1...

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Identifiers

PMID: 27614114
DOI: 10.1016/j.neurobiolaging.2016.07.030
PMCID: PMC5075491

Genes

PSEN1

Provenance

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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