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Abstract Details

A Retrospective Review of Adult Autosomal Dominant Leukodystrophy: Mayo Clinic Experience
General Neurology
P11 - Poster Session 11 (5:30 PM-6:30 PM)

Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive leukodystrophy caused by duplication of LMNB1.

We performed a retrospective chart review of all ADLD patients seen at Mayo clinic to summarize our experience.

Electronic medical record was searched for term “adult leukodystrophy” from 1948-2023 using an inhouse text search tool, Advanced text explorer. All available clinical and radiological data from molecularly confirmed ADLD patients was reviewed by a fellowship-trained neurogeneticist

Of the 8 patients identified, 3 were male. Age at first reported symptom ranged from 33 to 69 years. Of the male patients, the first symptom was erectile dysfunction (2/3) or neurogenic bladder (1/3). Of the 5 female patients, the first symptom was weakness (3/5), bladder dysfunction (1/5) or depression (1/5). Commonly reported features included neurogenic bladder (8/8), fatigue (7/8), sleep issues (4/8: 2/4 insomnia, 2/4 daytime sleepiness), tremor (4/8), anxiety (4/8), and depression (3/8). The disease course was slowly progressive in all.

Family history of leukodystrophy was positive in 6. Seven patients had LMNB1 duplication and one had a 320-kilobase 5q23.2 duplication, including all of LMNB1 and part of MARCH3.

A total of 18 MRI brains were reviewed for 7/8 patients. Age at MRI ranged from 33 to 69 years. All showed symmetric T2W confluent deep cerebral and periventricular white matter hyperintensities along with involvement of the posterior limb of the internal capsule, corpus callosum, corticospinal tract in brain stem, superior and middle cerebellar peduncles. One CT brain was available that showed hypodensities in the corresponding areas.

Seven MRIs of spine from 6 patients showed moderate diffuse atrophy of the spinal cord more pronounced in cervical and thoracic regions.

ADLD is an ultra-rare progressive leukodystrophy with characteristic neuroimaging and clinical findings. Identification of these clinical symptoms and MRI changes can lead to prompt genetic testing and diagnosis.

Radhika Dhamija, MD (Mayo Clinic)
Dr. Dhamija has nothing to disclose.
W. O. Tobin, PhD, MBBCh, BAO, FAAN (Mayo Clinic) The institution of Dr. Tobin has received research support from Mallinckrodt. Dr. Tobin has received publishing royalties from a publication relating to health care. Dr. Tobin has received personal compensation in the range of $500-$4,999 for serving as a Speaker with NeurologyLive.
Ralitza H. Gavrilova, MD (Mayo Clinic) Dr. Gavrilova has nothing to disclose.
Margot Cousin (Mayo Clinic) No disclosure on file
Karthik Muthusamy, MBBS (Mayo Clinic) Dr. Muthusamy has nothing to disclose.