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Abstract Details

Adult Onset Autosomal Dominant Leukodystrophy Presenting with REM Sleep Behavior Disorder
Sleep
P05 - (-)
021
BACKGROUND: ADLD is a slowly progressive hereditary disease of the white matter caused by duplication of the nuclear lamina protein Lamin B1 on Chromosome 5q23.2. Patients usually present in the 4th - 5th decade with autonomic symptoms followed by pyramidal and cerebellar dysfunction. RBD is a parasomnia characterized by dream enactment behavior and REM sleep without atonia and has been reported most commonly with synucleinopathies. Lesion based studies have suggested that RBD may be generated in the subceruleus nucleus in the dorsal pons although other brainstem regions are also involved. RBD has not been reported with leukodystrophies.
DESIGN/METHODS: Case report at academic medical center.
RESULTS: A 63-year-old man presented with low back pain, leg stiffness while walking and rare episodes of stool incontinence. A collateral history revealed four years of dream enactment behavior. He had not used medications associated with RBD. Family history was notable for multiple first degree relatives with gait difficulties suggestive of autosomal dominant transmission. Neurological exam revealed spasticity in the lower extremities and bilateral extensor plantar responses. There were no extrapyramidal features. MRI thoracic spine demonstrated spinal cord atrophy. MRI head showed symmetric bilateral T2-signal hyperintensities in the anterior medulla, middle cerebellar peduncles, dorsal pontine tegmentum, midbrain and subcortical white matter. A polysomnogram revealed REM sleep without atonia and dream enactment behavior confirming a diagnosis of RBD. Genetic testing confirmed the Lamin B1 duplication on chromosome 5 consistent with a diagnosis of adult onset autosomal dominant leukodystrophy. He was prescribed melatonin 3-12 mg before bed for his RBD resulting in a decreased frequency of RBD.
CONCLUSIONS: This case expands the range of conditions associated with RBD and may provide some pathophysiological insight into this disorder.
Authors/Disclosures
Eoin P. Flanagan, MBBCh, FAAN (Mayo Clinic)
PRESENTER 		The institution of Dr. Flanagan has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Flanagan has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Pharmacy times. The institution of Dr. Flanagan has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for UCB. The institution of Dr. Flanagan has received research support from UCB. The institution of Dr. Flanagan has received research support from Roche. The institution of Dr. Flanagan has received research support from UCB. The institution of Dr. Flanagan has received research support from Merck. The institution of Dr. Flanagan has received research support from Roche. Dr. Flanagan has received publishing royalties from a publication relating to health care. Dr. Flanagan has received publishing royalties from a publication relating to health care. Dr. Flanagan has a non-compensated relationship as a Member of medical Advisory Board with The MOG Project that is relevant to AAN interests or activities. Dr. Flanagan has a non-compensated relationship as a Editorial board member with Journal of The Neurologic Sciences that is relevant to AAN interests or activities. Dr. Flanagan has a non-compensated relationship as a Editorial board member with Neuroimmunology Reports that is relevant to AAN interests or activities. Dr. Flanagan has a non-compensated relationship as a Editorial Board Member with Neurology, Neuroimmunology Neuroinflammation (N2) Journal that is relevant to AAN interests or activities. Dr. Flanagan has a non-compensated relationship as a Editorial Board Member with Neurology that is relevant to AAN interests or activities.
Jacinda B. Sampson, MD, PhD Dr. Sampson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Dyne Therapeutics. Dr. Sampson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Viking Therapeutics. Dr. Sampson has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen. Dr. Sampson has received research support from Marigold Foundation. Dr. Sampson has a non-compensated relationship as a Scientific Advisory Committee with Myotonic Dystrophy Foundation that is relevant to AAN interests or activities.
Ralitza H. Gavrilova, MD (Mayo Clinic) Dr. Gavrilova has nothing to disclose.
Bradley F. Boeve, MD, FAAN (Mayo Clinic) Dr. Boeve has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Rainwater Charitable Foundation. The institution of Dr. Boeve has received research support from Alector. The institution of Dr. Boeve has received research support from EIP Pharma. The institution of Dr. Boeve has received research support from Transposon. The institution of Dr. Boeve has received research support from Cognition Therapeutics. Dr. Boeve has received publishing royalties from a publication relating to health care.
Neeraj Kumar, MD (Mayo Clinic, Dept of Neurology) Dr. Kumar has nothing to disclose.
No disclosure on file
Michael Silber, MB, ChB, FAAN (Mayo Clinic) Dr. Silber has received publishing royalties from a publication relating to health care. Dr. Silber has received personal compensation in the range of $500-$4,999 for serving as a Topic writer with UpToDate.
Michael S. Okun, MD, FAAN (University of Florida) Dr. Okun has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for NIH. Dr. Okun has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Parkinson's Foundation. Dr. Okun has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for JAMA Neurology. Dr. Okun has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for NEJM Journal Watch. The institution of Dr. Okun has received research support from NIH. The institution of Dr. Okun has received research support from Parkinson's Foundation. The institution of Dr. Okun has received research support from Tourette Association of America. The institution of Dr. Okun has received research support from Michael J Fox. Dr. Okun has received publishing royalties from a publication relating to health care.