- Involuntary and uncontrollable vocalizations, such as constant groaning and grunting, are rare, striking features of several neurological conditions, including advanced Progressive Supranuclear Palsy (PSP), vascular dementia, Alzheimer's disease, and frontotemporal dementia . To date, there are no known treatment options for groaning in PSP. We report on the improvement of groaning with escitalopram in a patient with PSP.
- VPS13C is a protein-coding gene involved in the regulation of mitochondrial function through the endolysosomal pathway in neurons. Homozygous and compound heterozygous VPS13C mutations are etiologically associated with early-onset Parkinson’s disease (PD). Moreover, recent studies linked biallelic VPS13C mutations with the development of dementia with Lewy bodies (DLB). Neuropathological studies on two mutated subjects showed diffuse Lewy body disease. In this article, we report the clinical and genetic findings of two subjects affected by early-onset PD carrying three novel VPS13C mutations (i.e., one homozygous and one compound heterozygous), and review the previous literature on the genetic and clinical findings of VPS13C-mutated patients, contributing to the knowledge of this rare genetic alpha-synucleinopathy.
- Progressive supranuclear palsy (PSP) features parkinsonism characterized by early postural instability, falls and prominent eye movement abnormalities that consist of saccadic slowing, followed by gaze limitation. Nystagmus is not considered typical for PSP, being more commonly associated with multiple system atrophy.
- Progressive Supranuclear Palsy (PSP) is a rare, progressive, neurodegenerative disease characterized by postural instability and falls as well as vertical supranuclear gaze palsy (VSGP) defined as a clear limitation of the range of voluntary gaze in the vertical more than in the horizontal plane . However, overt VSGP may be anticipated by either slowing of vertical saccades or the “round-the-houses” phenomenon (i.e., a curved trajectory of ocular movements when patients attempt to perform vertical saccades ).
- 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.