Marchiafava-Bignami Disease:Clinical and MRI Findings in Two Patients

We'herein report two alcoholic patients with highly suspicious Marchiafava- Bignami disease(MBD) who developed acute neurologic dysfunction and showed characteristic abnormalities in the corpus callosum on the brain MRIs: focal low signal lesion (s) in the genu or splenium of the corpus callosum, and diffuse callosal atrophy on the sagittal Tl-weighted images

A Study on Selective Cerebellar Degeneration Following ,β-Fluorethyl Acetate Poisoning

This is to report clinical and radiological findings in 7 patients with selective cerebellar degeneration following ,B-fluoroethyl acetate intoxication. ,B-Fluoroethyl acetate, an ethyl ester of fluoroacetate which is a metabolic inhibitor of Krebs cycle is used as a rodenticide. Following initial stage of coma from intoxication, the patients woke up to show selective cerebellar dysfunction, often so severe as not to be able to sit or stand unsupported. They improved gradually over several months to years with variable degrees of residual cerebellar dysfunction. Gait disturbance and dysarthria were the most prominent and persistent factors of the cerebellar dysfunction, whereas mild nystagmus was rarely seen. Cognitive function was not impaired. Cerebellar atrophy became noticeable on CT and MRI 4 weeks after poisoning, and progressed over time even with clinical improvement. Cerebellar degeneration contrasts with pallidal degeneration following carbon monoxide poisoning. ,B-Fluoroethyl acetate may be selectively toxic to the cerebellum

Identification of PSEN1 and APP Gene Mutations in Korean Patients with Early-Onset Alzheimer's Disease

Although mutations in three genes, amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2), have been identified as genetic causes of early-onset Alzheimer's disease (EOAD), there has been a single report on a PSEN1 mutation in Koreans. In the present study, we performed a genetic analysis of six Korean patients with EOAD. Direct sequencing analysis of the APP, PSEN1 and PSEN2 genes revealed two different mutations of the PSEN1 gene (G206S and M233T) and one mutation of the APP gene (V715M) in three patients with age-at-onset of 34, 35, and 42 yr, respectively. In addition, two patients with age-at-onset of 55 and 62 yr, respectively, were homozygous for APOE ε4 allele. One woman had no genetic alterations. These findings suggest that PSEN1 and APP gene mutations may not be uncommon in Korean patients with EOAD and that genetic analysis should be provided to EOAD patients not only for the identification of their genetic causes but also for the appropriate genetic counseling