Late onset of Huntington's disease.

Late onset of Huntington's disease.

Twenty-five patients with late-onset Huntington's disease were studied; motor impairment appeared at age 50 years or later. The average age at onset of chorea was 57.5 years, with an average age at diagnosis of 63.1 years. Approximately 25% of persons affected by Huntington's disease exhibit late onset. A preponderance of maternal transmission was noted in late-onset Huntington's disease. The c...

Late-onset Tay-Sachs disease.

We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms. MR scan of the brain showed isolated cerebellar atrophy and formal neuropsychometric testing identified significant subclinical defici...

Applying Bioinfomatics Strategies in Huntingtons Disease Research

Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report

Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency. The current treatment is enzyme replacement therapy, which may slow down the disease progression. Sometimes, the clinical presentation can be...

99mTc-TRODAT-1 SPECT Imaging in Early and Late Onset Parkinson’s Disease

Objective(s): 99mTc-TRODAT-1, which binds to the dopamine transporter, could be used to image the dopaminergic system in diagnosis of Parkinson’s disease (PD). PD can be classified into two groups: late onset Parkinson’s disease (LOPD) and early onset Parkinson’s disease (EOPD). In this study we tried to determine the TRODAT SPECT findings in EOPD as compared to LOPD.Methods: Fifteen patients w...