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Abstract Details

TANGO2 Mutation: A Novel Cause of Movement Disorders
Movement Disorders
P4 - Poster Session 4 (5:30 PM-6:30 PM)
10-048
To report the clinical phenotype of a genetically confirmed case of TANGO2 mutation in a patient with dystonia and tremor.
TANGO2 (Transport and golgi organization 2 homolog), also known as (C22orf25), is a gene of unknown function with localization to golgi, cytoplasm, and mitochondria. It appears to have a role in golgi organization and protein secretion, and mutations may cause defects in mitochondrial beta-oxidation, reduced golgi volume, and increased endoplasmic reticulum stress. Variable phenotypes are described but typically include developmental delay, early metabolic crises with rhabdomyolysis, and cardiac arrhythmias. Additional neurological manifestations include seizures, dysarthria, ataxia, increased tone, hyperreflexia, and gait instability. This case demonstrates torsional dystonia and tremor as components of the neurologic spectrum of TANGO2 mutations.
NA

A 17-year-old female with developmental delay presented with abnormal involuntary movements. She reported episodic muscle tightening in the hands with activity, abnormal posturing, and irregular tremoring. On ambulation, she had plantar flexion and inversion of both feet with slowed gait. The remainder of her exam revealed cognitive delay, strabismus with right exotropia, hearing loss, mild ptosis, and severe dysarthria. She had unremarkable gestational and birth history, but arrest of milestones at about 9 months and seizures coinciding with cessation of nighttime feedings. She experienced hypoglycemic crises and spells of elevated CPK of unknown etiology. MRI revealed microcephaly and EMGs remained normal with a muscle biopsy suggestive of complex 1 mitochondrial deficiency. She was successfully managed with levetiracetam for seizures, clonazepam for upper extremity tremors, and botulinum toxin injections for the foot dystonia. At 25-years-old, genetic testing revealed a TANGO2 mutation.
TANGO2 mutations produce a recently described disease entity with evolving phenotypic presentation. We report dystonia and tremor in the context of a TANGO2 mutation, expanding upon previously reported neurologic phenotypes.
Authors/Disclosures
Matthew R. Burns, MD, PhD (University of Florida)
PRESENTER 		The institution of Dr. Burns has received research support from NIH. The institution of Dr. Burns has received research support from Mcknight Brain Institute.
Shannon Y. Chiu, MD, MSc (Mayo Clinic Arizona) Dr. Chiu has received research support from NIH.
Ahmad El Kouzi, MD, FAAN Dr. El Kouzi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Abbvie.
Irene Malaty, MD, FAAN (University of Florida) Dr. Malaty has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Abbvie. Dr. Malaty has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Aevum. The institution of Dr. Malaty has received research support from Abbvie. The institution of Dr. Malaty has received research support from Revance. The institution of Dr. Malaty has received research support from Parkinson Foundation. The institution of Dr. Malaty has received research support from SAGE. The institution of Dr. Malaty has received research support from Emalex. The institution of Dr. Malaty has received research support from Acadia. Dr. Malaty has received publishing royalties from a publication relating to health care. Dr. Malaty has received personal compensation in the range of $500-$4,999 for serving as a Speaker & Center of Excellence Director with Parkinson Foundation. Dr. Malaty has a non-compensated relationship as a MAB member & Center of Excellence Directory with Tourette Association of America that is relevant to AAN interests or activities.