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Abstract Details

White and Gray Matter Brain Volumes in Early-Onset Alexander Disease
General Neurology
S32 - General Neurology: Advances in Neurology: From the Clinic to the Bench (4:25 PM-4:36 PM)
006

Early-onset (Type I) AxD is defined by macrocephaly and extensive frontal white matter T2 hyperintensity and basal ganglia signal abnormality or swelling.

To characterize brain volumes in early-onset Alexander Disease (AxD).

Type I AxD participants with research 3T MRI scans were included. Whole brain (WB), white matter (WM), and gray matter (GM) volumes were calculated using SIENAX (part of the FSL toolkit). The ratios of absolute WM and GM to absolute WB volumes and normalized WM, GM, and WB volumes for head size (NWMV, NGMV, and NWBV, respectively) were computed. Similar methods were utilized in age- and sex-matched healthy controls (HC) from the Philadelphia Neurodevelopmental Cohort (PNC) and compared to AxD subjects using 2-sample tests.

AxD Type 1 subjects (N=11, mean age at scan 12.2 years, range 5.2–20.2) were compared to HC (N=11, 9 matched within 1 year; one 5.9 and one 5.2-year-old were matched to the closest PNC ages: 8.4 and 8.2 years). NWBV did not differ between groups (p=0.13); however, AxD subjects had a larger average head size, as indicated by the SIENAX-derived scaling factor of 1.17 in AxD vs. 1.36 in HC (p<0.01). NWMV was significantly greater in HC (769505 mm3) than in AxD (645805 mm3, p<0.001). NGMV did not significantly differ between groups (HC 907362 mmvs. AxD 955422 mm3, p=0.21). However, AxD subjects had a greater proportion of GM contributing to total brain volume (60%) compared to HC (54%, p<0.001) and a smaller proportion of WM (40%) compared to HC (46%, p<0.001). The greater proportion of GM volume persisted even in those AxD subjects with reduced total brain volumes compared to HC.

Early-onset AxD is characterized by a disproportionate increase in GM, likely reflective of the astrocytic and neuronal pathology, and by loss of WM, consistent with AxD designation as a leukodystrophy.

Authors/Disclosures

PRESENTER
No disclosure on file
No disclosure on file
Christina Minkoff, CCC/SLP (The Childrens Hospital of Phialdelphia) No disclosure on file
No disclosure on file
Hannah R. Cooper (Children'S Hospital of Philadelphia) Ms. Cooper has nothing to disclose.
Adeline Vanderver, MD, FAAN (Children'S Hospital of Philadelphia) An immediate family member of Dr. Vanderver has received personal compensation for serving as an employee of Maryland Physician Care. The institution of Dr. Vanderver has received research support from Takeda. The institution of Dr. Vanderver has received research support from Passage Bio. The institution of Dr. Vanderver has received research support from Homology. The institution of Dr. Vanderver has received research support from Eli Lilly. The institution of Dr. Vanderver has received research support from Myrtelle. The institution of Dr. Vanderver has received research support from SynaptixBio. The institution of Dr. Vanderver has received research support from PMD Foundation. The institution of Dr. Vanderver has received research support from Ionis. The institution of Dr. Vanderver has received research support from ISD . The institution of Dr. Vanderver has received research support from Boehringer-Ingelheim. The institution of Dr. Vanderver has received research support from Biogen. The institution of Dr. Vanderver has received research support from Sana. The institution of Dr. Vanderver has received research support from Affinia. The institution of Dr. Vanderver has received research support from BridgeBio. The institution of Dr. Vanderver has received research support from Orchard. The institution of Dr. Vanderver has received research support from Minoryx. The institution of Dr. Vanderver has received research support from Forge Biologics. The institution of Dr. Vanderver has received research support from Vigil. Dr. Vanderver has received intellectual property interests from a discovery or technology relating to health care. Dr. Vanderver has received intellectual property interests from a discovery or technology relating to health care.
Brenda L. Banwell, MD, FAAN (Childrens Hospital of Philadelphia) Dr. Banwell has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Novartis. Dr. Banwell has received personal compensation in the range of $0-$499 for serving as a Consultant for UCB. Dr. Banwell has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Roche. Dr. Banwell has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Banwell has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Genentech. Dr. Banwell has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Banwell has received research support from National MS Society. The institution of Dr. Banwell has received research support from NIH.
Amy T. Waldman, MD (Children's Hospital of Philadelphia) Dr. Waldman has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for SwanBio. An immediate family member of Dr. Waldman has stock in Pfizer. The institution of Dr. Waldman has received research support from Ionis Pharmaceuticals. The institution of Dr. Waldman has received research support from Roche/Genentech. The institution of Dr. Waldman has received research support from Ionis Pharmaceuticals. Dr. Waldman has received publishing royalties from a publication relating to health care. Dr. Waldman has received publishing royalties from a publication relating to health care.