Citations
Citations
Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene. Typical age at onset of symptoms is in the 40s, but the disorder can manifest at any time. Late-onset (≥ 60 years) HD is clinically different from other adult or juvenile onset HD and characterized by mild motor problem as the initial symptoms, shorter disease duration, frequent lack of family history, and relatively low CAG repeats expansion. We report a case of an 80-year-old female with oromandibular dyskinesia as an initial manifestation of HD and 40 CAG repeats.
Citations
A 76-year-old woman gradually developed action dystonia of the left hand and foot. Leptomeningeal metastasis of the right fronto-parietal area associated with gastric adenocarcinoma was found on the brain magnetic resonance imaging (MRI) and positron emission tomography (PET) studies. We discuss the mechanisms involved in the development of secondary hemidystonia and review dystonia associated with cortical lesions.
Citations
Familial cortical myoclonic tremor with epilepsy (FCMTE) is a rare disorder characterized by irregular postural tremor of the limbs, family history of seizures, autosomal dominant inheritance, and a rather benign course. A 23 year-old man who had a history of seizure attack since age 16 showed postural and kinetic tremor and mental retardation (MR). His older sister as well as his mother had similar clinical feature. We report the first case of FCMTE in Korea.