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 ...

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 ...

A 23 year-old man presented with slowly progressive gait and limb ataxia, slurred speech and nystagmus over 10 years. Spinocerebellar Ataxia (SCA): (Left) T2-weighted axial MRI; (Middle) T1-weighted ...

Dr. Kun-Wei Song (Neurology): A 70-year-old woman was admitted to this hospital because of rapidly progressive ataxia. The patient had been in her usual state of good health until 3 months before this ...

Multiple system atrophy is a rare, progressive neurodegenerative condition for which there is currently no cure. Multiple system atrophy (MSA) is a progressive neurodegenerative disorder with an ...

FRDA is an inherited recessive disorder characterized by progressive neurological disability and heart abnormalities. The first symptoms usually develop in childhood, but the age of onset varies, ...

The case: A previously healthy 42-year-old woman had presented to our neurology service 1 year earlier with left-sided temporal headaches that she said typically lasted from a few hours to all day.

A 21 year-old woman presented with slowly progressive gait and limb ataxia, scanning speech and nystagmus since early childhood. Spinocerebellar Ataxia (SCA): Axial CT scans. Note the severe atrophy ...