Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Dec 2023
Historique:
received: 21 07 2023
accepted: 01 09 2023
medline: 19 1 2024
pubmed: 19 1 2024
entrez: 19 1 2024
Statut: epublish

Résumé

The objective of this case report was to describe the first report of Considering the patient's symptoms, a nonprogressive leukoencephalopathy was suspected. CSF 5-methyltetrahydrofolate levels were low (10 nmol/L, normal range 41-117). With no other identifiable causes, a genetic analysis was conducted, revealing a compound heterozygous A 47-year-old man with a history of drug and alcohol abuse was admitted to the hospital for double vision and postural instability. MRI of the brain was performed, which showed bilateral leukoencephalopathy. Diffusion tensor imaging revealed a diffuse reduction in fractional anisotropy, suggesting microstructural changes. MRI of the brain and overall clinical picture were stable on subsequent serial examinations. Scientific evidence supports the deleterious effect of c.45G>T and c.493+2T>C variations on the folate receptor-α (FRα) protein structure and function. The weakness of the expression and function of FRα without elimination of its function caused by specific compound heterozygous variations may explain the atypical features observed in our patient. Although rare, CFD should be considered in paucisymptomatic adult patients with stable diffuse MRI white matter changes.

Identifiants

DOI: 10.1212/NXG.0000000000200104 PMID: 38239817 PMC: PMC10629229
pubmed: 38239817
doi: 10.1212/NXG.0000000000200104
pii: NXG-2023-000233DN
pmc: PMC10629229
doi:

Types de publication

Case Reports

Langues

eng

Pagination

e200104

Informations de copyright

Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Déclaration de conflit d'intérêts

The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures.

Auteurs

Carlo Manco (C)

From the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.

Rosa Cortese (R)

From the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.
ORCID: 0000-0002-9803-7914

Manfredi Alberti (M)

From the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.
ORCID: 0000-0001-5320-1023

Silvia Bianchi (S)

From the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.

Lucia Monti (L)

From the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.

Nicola De Stefano (N)

From the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.
ORCID: 0000-0003-4930-7639

Carla Battisti (C)

From the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.

Classifications MeSH