Pontocerebellar Hypoplasia Type 1

Abstract

Slowly progressive cerebellar ataxia in a 12-year-old Indian boy with early onset anterior horn cell spinal muscular atrophy is reported from the Department of Pediatric Neurology, Government Medical College, Kerala, India.

Keywords

• molecular genetic testing
• pontocerebellar hypoplasia type 1
• carbohydrate-deficient glycoprotein