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Abstract Details

A familial case of Congenital Mirror Movement (CMM) Syndrome Associated With A Novel DCC Variant
Movement Disorders
P14 - Poster Session 14 (11:45 AM-12:45 PM)
5-005
Mirror movements can be observed in neurodegenerative disorders, characterized by involuntary movements of one side of the body that mirror intentional movements on opposite side. Congenital mirror movements (CMM) is manifested by early-onset of these mirror movements in individuals without clinical signs or symptoms. Heterozygous pathologic variants in DCC, NTN1, RAD51, and DNAL4 have been associated with CMM and abnormalities or agenesis of the corpus callosum and concomitant cognitive and/or neuropsychiatric issues. The underlying molecular mechanisms causing CMM are hypothesized to be due to aberrant axonal projections and disrupted netrin1 signaling, particularly in commissural neurons.

Presenting a case of a three-generation family with CMM.

Whole exome sequencing was performed on the proband (Prevention Genetics). Based on prior studies showing callosal abnormalities in individuals with CMM, an MRI brain was obtained. Additional imaging studies, including tractography of the callosal fibers and functional connectivity across bilateral cortical regions will be obtained and compared to age- and gender-matched individuals. 
48-year-old male presented with a lifelong history of abnormal movements, described as unwanted movements of one side of his body when performing the same exact voluntary movements contralaterally. No other abnormal neurological findings or cognitive complaints on exam.  Same symptoms are present in patient’s father and son but not his brother. Clinical whole exome sequencing revealed a variant of uncertain significance in the gene DCC c.4009 C>T (p.Arg1337*) in the proband. This nonsense variant near the C-terminal in DCC netrin 1 receptor predicted to be pathogenic and not yet been reported. Clinical MRI brain was unremarkable and did not reveal corpus callosum abnormalities.
A three-generation family with CMM likely due to a novel DCC variant. Subsequent segregation analysis of this variant in the son, father, and unaffected brother are pending. Functional imaging studies are being conducted to understand the underlying neurophysiology of CMM.
Authors/Disclosures
Ankur Nayyar, MD (Tri Valley Neurology Medical Associates, Inc.)
PRESENTER
Dr. Nayyar has nothing to disclose.
Marie Ynez Davis, MD, PhD (VA Puget Sound) The institution of Dr. Davis has received research support from NIH NINDS. The institution of Dr. Davis has received research support from University of Washington Institute for Stem Cell and Regenerative Medicine. The institution of Dr. Davis has received research support from VA BLRD. Dr. Davis has received personal compensation in the range of $500-$4,999 for serving as a study section grant reviewer with NIH. Dr. Davis has received personal compensation in the range of $500-$4,999 for serving as a Grant reviewer with Parkinson's Foundation.
Swati Rane Levendovszky, PhD (University of Washington Medical Center) Dr. Levendovszky has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Applied Cognition. The institution of Dr. Levendovszky has received research support from NIH. The institution of Dr. Levendovszky has received research support from Dolsen Family Foundation. The institution of Dr. Levendovszky has received research support from University of Washington Medical Center.