Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is a rare phenotype resulting from pathogenic variants of mitochondrial DNA polymerase gamma (POLG). We modeled a novel POLG ...
The proband (case 1) was a 74-year-old man with hypertension. His parents were reported not to be consanguineous. His mother and father died at age 42 and 80, respectively, and they were free of ...
We report a case of paraneoplastic cerebellar degeneration (PCD) associated with adenocarcinoma of the esophagus and anti-Yo antibodies in a male patient. The patient presented with progressive ataxia ...
What is causing this 55-year-old woman to have distorted speech and balance problems when walking, and why have her symptoms worsened progressively since they came on 14 years ago? Those are the ...
Kaily Georgen-Schwartz is currently an undergraduate Speech Language Hearing Sciences student at the University of Colorado Boulder. She is currently pursuing an honors thesis on the influence of ...
An 82-year-old man presented to the emergency department with a two-week history of imbalance and gait disturbance resulting in a fall 10 days before presentation. There was no head injury. He ...
The case: A 53-year-old right-handed woman reported 2 years of gait difficulties and progressive clumsiness and weakness of her right upper and lower extremities. She was referred to our neurology ...
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