Movement Disorder Meeting Learning Points

Chennai 22/7/12

1. Unilateral tongue tremor - PET-CT study of basal ganglionic functions can help
2. PME's - If valproate is worsening - to consider mitochondrial disorder
3. Lafora body EEG may show posterior spiking (and giant cortical waveforms on SSEP - stimulus sensitive cortical generators for myoclonus)
4. Weight gain with valproate would worsen if also given clobazam
5. Lower limb myoclonus seen in tropical sprue
6. Lamotrigine described to worsen tics
7. "End-of-phenotype" - genotype correlations with MRI [discussed by AVS and one more] looked up - the only explanation for the term came from an article - BMC Medical Genetics 2010, 11:114 - Hippocampal and parahippocampal volume reduction is one of the most consistent findings in schizophrenia. Moreover, in a meta-analysis of brain volumes in relatives of patients with schizophrenia, hippocampal reduction was the largest difference between relatives and healthy controls. These findings suggest hippocampal volume as a potential end of phenotype for genetic studies in schizophrenia.
8. Sea blue histiocytes in generalized dystonia [AVS mentioned] looked up - juvenile dystonic lipidoses with sea blue histiocytes is a variant of Niemann Pick disease type C