Abstract Details

Title Expanding the Phenotype of BCL11B-related Disorders: A Case Series of Primary Movement Disorders with Literature Review

Topic Movement Disorders

Presentation(s) P10 - Poster Session 10 (11:45 AM-12:45 PM)

Poster/Presentation
Number 3-008

Objective Not applicable.

Background BCL11B-related disorder is an uncommon neurodevelopmental disorder with movement disorders rarely described as a prominent clinical feature.

Design/Methods We report a family of four patients: a father, twin sons, and their younger brother. Case 1 (Twin B) presented with expressive speech and fine motor delays as a toddler with progression to generalized dystonia (L>R), co-occurring level 1 autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), anxiety, and dysmorphic features. Dystonia failed symptomatic treatment despite optimizing medications; he is undergoing deep brain stimulation evaluation. Case 2 (Twin A) had early onset fine motor and articulation difficulties. He developed right hemibody dystonia with frequent hyperkinetic-choreiform movements, and has co-occurring level 1 ASD, OCD, anxiety, and dysmorphic features. Case 3 (younger brother) presented with a “galloping” run as a toddler, then focal left leg dystonia, which rapidly progressed to generalized dystonia and retrocolis. His symptoms became disabling despite medication optimization, prompting deep brain stimulation evaluation. He also presented with poor articulation and effortful speech. Case 4 (Father) has long-standing clumsiness and toe-walking, developed L>R hand tremor at age 20 followed by spasmodic torticollis, akathisia, dystonia, and severe chorea over time. Extensive workup revealed all four had a novel inherited heterozygous variant of unknown significance in the gene BCL11B (c.2422 T>C). Cases 1, 2, and 3 underwent neuropsychological testing. None of the cases met criteria for intellectual disability, and they all demonstrated relative strengths in language skills.

Results Previous case studies of BCL11B-related disorder (1-8) documented five cases with movement-related features. Including our cases, 9 of 32 (28%) have movement-related features, and 6 of 9 (67%) have dystonia as a prominent feature.

Conclusions With our case report, there appears to be a stronger association between BCL11B-related disorder and movement disorders than previously thought.

Authors/Disclosures
Ginny Lane (Wake Forest School of Medicine of Wake Forest Baptist Medical Center) PRESENTER	Ginny Lane has nothing to disclose.
Audrey Hunt, DO (Wake Forest Baptist Health)	Dr. Hunt has nothing to disclose.
Lia Thibodaux	No disclosure on file
Lubna Jafri, MD, MBBS (Wake Forest Baptist Health)	Dr. Jafri has nothing to disclose.
Leah Chapman (Atrium Health Wake Forest Baptist)	Leah Chapman has received research support from NIH and NINDS.
Jessica Tate, MD (Atrium Health Wake Forest Baptist)	The institution of Dr. Tate has received research support from Ipsen. The institution of Dr. Tate has received research support from Boston Scientific. The institution of Dr. Tate has received research support from Revance Therapeutics. The institution of Dr. Tate has received research support from CHDI Foundation. The institution of Dr. Tate has received research support from NINDS. The institution of Dr. Tate has received research support from Michael J. Fox Foundation.
Alexander Paciorkowski, MD	The institution of Dr. Paciorkowski has received research support from University of Rochester.
Jaclyn Martindale, DO, FAAN (Wake Forest Medical Center)	Dr. Martindale 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 Movement Disorder Society. The institution of Dr. Martindale has received research support from Tourette Association of America. The institution of Dr. Martindale has received research support from American Board of Neurology and Psychiatry.

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