Michael V Johnston MD

Neonatal white matter injury

Infant botulism

Nondominant hereditary ataxias

Hereditary ataxias are characterized by degeneration of the cerebellum and spinal cord. Friedreich ataxia (FRDA), caused by a GAA trinucleotide (triplet) repeat expansion mutation, is the most common nondominant form. A childhood onset spinocerebellar ataxia (SCA), FRDA is associated with scoliosis, cardiomyopathy, and absent knee and ankle jerks.

Autosomal dominant hereditary ataxias

The autosomal dominant hereditary ataxia syndromes consist of more than 40 known spinocerebellar ataxia syndromes, dentatorubral-pallidoluysian atrophy, and 8 episodic ataxia syndromes. They have a range of phenotypes that can be categorized as ataxia plus nonataxia symptoms, ataxia with vision loss, and almost purely isolated cerebellar ataxia. Their cardinal clinical feature is progressive incoordination of movement, either in the presence or absence of other neurologic signs.

Cerebral palsy

Ataxia-telangiectasia

Acute cerebellar ataxia in children

Acute cerebellar ataxia is a relatively common disorder among children and is usually observed following an acute viral illness or vaccination. The usual