{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T19:55:03Z","timestamp":1769457303194,"version":"3.49.0"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:00:00Z","timestamp":1759795200000},"content-version":"vor","delay-in-days":279,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Autosomal dominant spastic paraplegia type 4 (SPG4, SPAST gene) is commonly described as a pure phenotype, with progressive spastic weakness of the lower limbs. Some cognitive disorders have been reported but remain difficult to characterize. Brain flurodesoxyglucose (18F-FDG) PET is a sensitive biomarker of glycolytic metabolism and shows loss of neuronal activity. Our objective was to describe the cognitive impairment of SPG4 patients, supported by brain 18F-FDG PET, to characterize the cognitive pattern and its localization. Twenty subjects from the Grand Est region, with a pathogenic variant in the SPAST gene, were included. Each patient had to undergo a neuropsychological assessment, a brain 18F-FDG PET scan, and a SPATAX-EuroSpa clinical assessment, including the Spastic Paraplegia Rating Scale (SPRS). Brain 18F-FDG PET was analyzed semiquantitatively after comparison with age and sex-matched control subjects. The study population was 65% (13\/20) female, with an average age of 50 years (19\u201375 years). The median SPRS was 15\/52 (12\u201345). Forty-six percent (7\/15) of patients had a deficient Montreal Cognitive Assessment (MoCA) score (score &amp;lt;26) without any severe impairment (score &amp;lt;10). Assessments with a pathological score of &amp;lt;1.65 standard deviations or at the 5th percentile included verbal episodic memory in 16-item Free and Cued Recall Test (16-FCRT; 63%, 10\/16), facial emotion recognition (56%, 9\/16), and executive functions (Trail Making Test A and B; 47%, 7\/15; the Stroop; 47%, 7\/15; digit span of Weschler Adult Intelligence Scale 4; 38%, 6\/16). Compared with those of control subjects, 18-FDG PET images of the brains of SPG4 subjects revealed frontotemporal and precuneus hypometabolism, principally in the prefrontal cortex, which was mainly mesial (P voxel value &amp;lt;0.001, corrected for the size of the familywise error (FWE) cluster, k = 1464). Frontal hypometabolism was correlated with age at onset (k = \u22120.475, P = 0.046) and the time to perform the Trail Making Test B test (k = \u22120.597, P = 0.019). Here, we describe a mild cognitive disorder clinically in SPG4 patients, associated with an hypometabolism on 18F-FDG PET imaging, which mainly corresponded to frontotemporal localization. Mild cognitive dysfunction should be screened in SPG4, as it can have a significant impact on socioprofessional life. Brain 18F-FDG PET, combined with neuropsychological assessment appears to be a good screening and follow-up examination for cognitive disorders.<\/jats:p>","DOI":"10.1093\/braincomms\/fcaf382","type":"journal-article","created":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T11:38:12Z","timestamp":1759750692000},"source":"Crossref","is-referenced-by-count":1,"title":["Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography"],"prefix":"10.1093","volume":"7","author":[{"given":"Rapha\u00ebl","family":"Miroglio","sequence":"first","affiliation":[{"name":"Department of Neurology, CHRU Nancy , Nancy 54000 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Armand","family":"Hocquel","sequence":"additional","affiliation":[{"name":"Department of Neurology, CHRU Nancy , Nancy 54000 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,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6704-3158","authenticated-orcid":false,"given":"Emmanuelle","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, CHRU Nancy , Nancy 54000 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Hopes","sequence":"additional","affiliation":[{"name":"Department of Neurology, CHRU Nancy , Nancy 54000 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maud","family":"Michaud","sequence":"additional","affiliation":[{"name":"Department of Neurology, CHRU Nancy , Nancy 54000 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Pittion-Vouyovitch","sequence":"additional","affiliation":[{"name":"Department of Neurology, CHRU Nancy , Nancy 54000 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