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A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

ABSTRACT: Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison.In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty. The patient developed a mixed hyperkinetic disorder consisting of chorea, dystonia affecting the upper extremities, dysarthria, and blepharospasm. Whole exome sequencing of the patient revealed a novel heterozygous missense variant (Chr11(GRCh38): g.26525644C?>?G; NM_031418.2(ANO3): c.702C?>?G; NP_113606.2. p.C234W) in exon 7 in the ANO3 gene.ANO3 encodes anoctamin-3, a Ca+2-dependent phospholipid scramblase expressed in striatal-neurons, that has been implicated in autosomal dominant craniocervical dystonia (Dystonia-24, DYT24, MIM# 615034). To date, only a handful of cases of DYT-24 have been described in the literature. The complex clinical presentation of the patient described includes hyperkinesias, complex motor movements, and vocal tics, which have not been reported in other patients with DYT24. This report highlights the utility of using clinical whole exome sequencing in patients with complex neurological phenotypes that would not normally fit a classical presentation of a defined genetic disease.

SUBMITTER: Blackburn PR

PROVIDER: S-EPMC5139108 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature

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A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

Blackburn Patrick R PR Zimmermann Michael T MT Gass Jennifer M JM Harris Kimberly G KG Cousin Margot A MA Boczek Nicole J NJ Ross Owen A OA Klee Eric W EW Brazis Paul W PW Van Gerpen Jay A JA Atwal Paldeep S PS

BMC medical genetics 20161205 1

<h4>Background</h4>Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison.<h4>Case presentation</h4>In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip ...[more]

PMID: 27919237

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Project description:Purpose of review:This review summarizes case reports of patients with tics emerging subsequent to traumatic brain injury (TBI), with respect to demographics, post-TBI symptoms, tic onset latency and topography, clinical history, neuroimaging results and treatment outcome.Recent findings:Patients were 22 adults and 3 youth. Trauma onset appeared to fall mostly in adulthood. Two-thirds of patients were male and head trauma was related to motor vehicle accidents in most cases. Loss of consciousness was reported in just below half (48.0%) of cases. Associated physical and cognitive symptoms (e.g., impaired memory, reduced sensory perception, poor balance, muscle weakness, attention problems, aggression/impulsivity, obsessions and compulsions, depression and anxiety) were commonly reported. The latency between head trauma and tic onset varied, but generally ranged from one day post-trauma to approximately one year post-trauma. Sole presentation of motor tics was common, with rostral to caudal development of motor tics in other cases. Simple and/or complex vocal tics were present in several cases, often emerging after motor tics. Post-trauma obsessive-compulsive symptoms were noted in five cases (20.0%). A personal or family history of tics was reported in four cases. Damage to the basal ganglia, ventricular system, and temporal region was observed across ten patients (40.0%). Pharmacological intervention varied, with tic symptoms deemed to have significantly or somewhat improved in 12 cases (48.0%). A comparison of post-TBI symptoms in youth with head trauma history relative to those with peripheral injury suggests tic symptoms are not a common post-TBI symptom in youth.Summary:Ultimately, there has been limited study on the link between traumatic brain injury and tic expression, and methodological issues preclude the ability to draw definitive conclusions regarding this relationship. Nevertheless, findings do suggest there may be heterogeneity in brain dysfunction associated with tic expression. Future case reports should utilize more systematic and thorough assessment of TBI and tics using validated measures, evaluate medication effects using single-case designs, and perform more longitudinal follow-up of cases with repeated neuroimaging.

Dataset Information

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

Publications

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

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