Neuroradiological Patterns and Prognostic Implications in Type I Alexander Disease

Neuroradiological Patterns and Prognostic Implications in Type I Alexander Disease Publisher Pubmed

Vaia Y ; Arrigoni F ; Sira L B ; Bernard G ; Bertini E ; Boespflug Tanguy O ; Bruschi F ; Cereda C ; Eichler F ; Erbetta A ; Ferraro S ; Heidari M ; Lalli L ; Lambert G Show All Authors

Vaia Y
Arrigoni F
Sira L B
Bernard G
Bertini E
Boespflug Tanguy O
Bruschi F
Cereda C
Eichler F
Erbetta A
Ferraro S
Heidari M
Lalli L
Lambert G
Libzon S
Longo D
Moroni I
Nagy A
Nicita F
Renaldo F
Rodriguez D
Khan G S
Tavasoli A R
Winter E
Zerem A
Parazzini C
Tonduti D

Source: Molecular Genetics and Metabolism Published:2026

Abstract

Introduction: Type I Alexander Disease (AxD) is a rare leukodystrophy that can be subclassified into subtypes (Ia, Ib, Ic, and Id), in order of decreasing severity. To date, no study has correlated MRI findings with AxD type I clinical evolution. This study aims to identify MRI features that may predict disease progression. Methods: Patients with genetically confirmed type I AxD were recruited from multiple Leukodystrophy Centers worldwide. Clinical data were collected via RedCap, and patients were retrospectively classified by disease subtype. Leukodystrophy experts analyzed the first available MRI scans using an adapted AxD MRI scoring protocol, and imaging findings were correlated with disease subtypes. Results: 47 subjects with type I AxD were enrolled. Subtype distribution included 3 Ia, 12 Ib, 8 Ic, 10 Id, 10 Ic/Id, and 4 undetermined. Risk of belonging to type Ib compared to other subtypes was significantly increased in case of involvement of parietal subcortical WM (OR = 16.1, p = 0.003), occipital deep WM (p = 0.008), temporal deep (p = 0.018), and periventricular WM (p = 0.013), body of corpus callosum (p = 0.018), genu of corpus callosum (p = 0.047) and hilar region of cerebellum (p = 0.008). Involvement of occipital periventricular WM was associated to a higher risk of being type Ic compared to type Id (p = 0.010). Conclusions: Some distinct MRI patterns on initial MRI scans may predict disease outcomes in type I AxD. These findings may help clinicians in early prognostic stratification, with key brain regions needing careful evaluation. Further studies are required to validate these findings and improve prognostic accuracy in type I AxD. © 2026 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY license. http://creativecommons.org/licenses/by/4.0/

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Style	Citing Format
MLA	Vaia Y, et al.. "Neuroradiological Patterns and Prognostic Implications in Type I Alexander Disease." Molecular Genetics and Metabolism, vol. 148, no. 4, 2026, pp. -.
APA	Vaia Y, Arrigoni F, Sira L B, Bernard G, Bertini E, Boespflug Tanguy O, Bruschi F, Cereda C, Eichler F, Erbetta A, Ferraro S, Heidari M, Lalli L, Lambert G, Libzon S, Longo D, Moroni I, Nagy A, Nicita F, ... Tonduti D (2026). Neuroradiological Patterns and Prognostic Implications in Type I Alexander Disease. Molecular Genetics and Metabolism, 148(4), -.
Chicago	Vaia Y, Arrigoni F, Sira L B, Bernard G, Bertini E, Boespflug Tanguy O, Bruschi F, et al.. "Neuroradiological Patterns and Prognostic Implications in Type I Alexander Disease." Molecular Genetics and Metabolism 148, no. 4 (2026): -.
Harvard	Vaia Y et al. (2026) 'Neuroradiological Patterns and Prognostic Implications in Type I Alexander Disease', Molecular Genetics and Metabolism, 148(4), pp. -.
Vancouver	Vaia Y, Arrigoni F, Sira L B, Bernard G, Bertini E, Boespflug Tanguy O, et al.. Neuroradiological Patterns and Prognostic Implications in Type I Alexander Disease. Molecular Genetics and Metabolism. 2026;148(4):-.
BibTex	@article{ author = {Vaia Y and Arrigoni F and Sira L B and Bernard G and Bertini E and Boespflug Tanguy O and Bruschi F and Cereda C and Eichler F and Erbetta A and Ferraro S and Heidari M and Lalli L and Lambert G and Libzon S and Longo D and Moroni I and Nagy A and Nicita F and Renaldo F and Rodriguez D and Khan G S and Tavasoli A R and Winter E and Zerem A and Parazzini C and Tonduti D}, title = {Neuroradiological Patterns and Prognostic Implications in Type I Alexander Disease}, journal = {Molecular Genetics and Metabolism}, volume = {148}, number = {4}, pages = {-}, year = {2026} }
RIS	TY - JOUR AU - Vaia Y AU - Arrigoni F AU - Sira L B AU - Bernard G AU - Bertini E AU - Boespflug Tanguy O AU - Bruschi F AU - Cereda C AU - Eichler F AU - Erbetta A AU - Ferraro S AU - Heidari M AU - Lalli L AU - Lambert G AU - Libzon S AU - Longo D AU - Moroni I AU - Nagy A AU - Nicita F AU - Renaldo F AU - Rodriguez D AU - Khan G S AU - Tavasoli A R AU - Winter E AU - Zerem A AU - Parazzini C AU - Tonduti D TI - Neuroradiological Patterns and Prognostic Implications in Type I Alexander Disease JO - Molecular Genetics and Metabolism VL - 148 IS - 4 SP - EP - PY - 2026 ER -

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