- Amyotrophic lateral sclerosis is a fatal neurodegenerative disease which is familial in nearly 10% of affected patients . Most familial ALS (FALS) are caused by mutations in C9orf72, SOD1, TARDBP and FUS genes . Mutations of OPTN gene is a rare cause of FALS with heterogeneous clinical associations such as frontotemporal dementia (FTD), primary open angle glaucoma, and Paget's disease of the bone [1,2]. We describe two siblings with a novel OPTN mutation and atypical parkinsonian phenotype.
- Corticobasal degeneration (CBD) is a neurodegenerative, sporadic disorder of unknown cause. Few familial cases have been described.
- Multiple system atrophy (MSA) presents with fairly symmetrical, levodopa unresponsive parkinsonism and additional features like autonomic dysfunction, cerebellar and corticospinal tract involvement. Marked asymmetry in atypical parkinsonism suggests alternative diagnosis like Corticobasal syndrome (CBS).
- 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.
- Corticobasal syndrome (CBS) was first described as a late adult-onset, progressive neurodegenerative disorder in 1968 by Ribeiz et al.  The classical clinical manifestations consist of an asymmetric, akinetic-rigid syndrome with apraxia, dystonia and myoclonus as well as prominent cortical dysfunctions such as cortical sensory loss and alien limb phenomenon. We report here a case of CBS with unusually increased arm swing on the affect side while walking.