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Abstract Details

Two Heterozygous SNYE1 Mutations Presenting as Spasmodic Adductor Dysphonia, Task-specific Jaw Dystonia, Generalized Dystonia, and Ataxia in a Jamaican Man.
Movement Disorders
P16 - Poster Session 16 (5:30 PM-6:30 PM)
3-008
Expanding the phenotype of SYNE1 mutations to include dystonia with ataxia
In 2007 mutations in the SYNE1 gene were found to cause a recessive pure cerebellar ataxia (1). Typical patients progress with late-onset ataxia, moderate to severe dysarthria, and cerebellar atrophy (1,2). Genetic research identified multiple mutation sites causing truncation, missense, and frameshift mutations in the SYNE1 gene with different phenotypes including upper and lower motor neuron disease, brainstem dysfunction, mental retardation and musculoskeletal abnormalities (3, 4). Most phenotypes include cerebellar and non-cerebellar symptoms (4). We report 2 novel heterozygous mutations in a Jamaican man with cerebellar ataxia and generalized dystonia with task-specific jaw dystonia.
All examinations and interviews were performed after obtaining informed consent. Whole blood was analyzed via Athena labs Ataxia Panel used Next Generation Sequencing, Repeat Expansion Detection by PCR, Dosage analysis, and Southern Blot.
A 74-year-old man presented with difficulty talking since age 60. His initial symptoms were  stuttering, which progressed to spasmodic adductor dysphonia and talking-specific dystonia consisting of forceful jaw closure. Laryngoscope showed bilateral adductor spasms on phonation only. By age 73 developed dystonic posting of the hands and right foot. Around age 60 he had progressive worsening of balance with a  decline after age 70. At age 74 he had an ataxic gait. Brain MRI showed cerebral and cerebellar atrophy. Genetic testing revealed 2 heterozygous mutations: c.7494: 1bp duplication of A: codon 2499, causing a frameshift; and c.336-1G>A heterozygous splice site. No other affected family members identified.
To date, SYNE1 mutations causing dystonia with ataxia has not been reported. This is also the first report of SYNE1 mutations in a Jamaican, to our knowledge. This case presents a unique phenotype of spasmodic adductor dysphonia, taking-specific dystonia, and mild generalized dystonia in addition to progressive ataxia with cerebellar atrophy associated with 2 SYNE1 mutations.
Authors/Disclosures
Sviatoslav Redko, MD
PRESENTER 		Dr. Redko has nothing to disclose.
Pratibha Surathi, MD (Rutgers New Jersey Medical School) Dr. Surathi has nothing to disclose.
Erin M. Feinstein, DO (Rutgers New Jersey Medical School) Dr. Feinstein has nothing to disclose.