- Cerebellar ataxia and parkinsonism are two common overlapping clinical syndromes in patients with spinocerebellar ataxia. We report a case mimicking the phenotype of early-onset Parkinson's disease with a candidate novel de novo mutation (c.1151A>G, p.K384R) in PRKCG, a gene known to cause spinocerebellar ataxia type 14.
- Brain regions can be functionally parceled into several circuits centered on the basal ganglia (BG); the anterior cingulate cortex (ACC) is a key element of the limbic circuit of BG . There has been little evidence supporting the role of ACC on BG motor circuit until now [2,3].
- Several cases of recurrent hemichorea have been associated with non-genetic causes [1-3]. However, recurrent hemichorea after an episode of hypoglycemia-induced hemichorea (HpogC) has not been reported.
- Primary progressive freezing gait (PPFG) is a clinical syndrome underlain by diverse neurodegenerative diseases and characterized by early occurrence of gait freezing. Either degeneration or integrity of the nigrostriatal terminals have been found by SPECT and PET studies. In this retrospective study, we evaluated 123I-FP-CIT SPECT findings in a consecutive series of 13 PPFG patients with detailed clinical evaluation over time (mean follow-up duration: 3.1 ± 1.2 years). In all patients, 123I-FP-CIT SPECT has been performed at the time of first clinical evaluation (1.7 ± 1.4 years after disease onset) and was compared with data from 23 age- and sex-matched healthy subjects.