- 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 ).
- Mutations in ATP13A2 have initially been described in Kufor-Rakeb syndrome (formerly termed PARK9), a form of juvenile-onset parkinsonism complicated by pyramidal signs, cognitive impairment and supranuclear gaze palsy  and additionally in a single family with neuronal ceroid lipofuscinosis (NCL) . In the latter family, the phenotype was characterized by progressive spinocerebellar ataxia, bulbar syndrome, extrapyramidal and pyramidal involvement, intellectual deterioration, peripheral neuropathy (PNP) and abnormal eye movements .
- Shaking on standing is a highly disabling syndrome caused by different disorders . Differential diagnosis heavily relies on electrophysiology. High-frequency tremor (>13 Hz) of the legs when standing is the hallmark of classic orthostatic tremor (OT). Alternatively, other mimics should be considered . Hereditary spastic paraplegias (HSP) are a heterogeneous group of inherited neurological disorders with the cardinal feature of a corticospinal motor neurons dysfunction, classified as either pure or complex based on the absence or presence, respectively, of associated signs .
- We read with great interest the publication by Rajput and colleagues, reporting the autopsy findings of five couples with conjugal parkinsonism (including three with atypical parkinsonism like multisystem atrophy (MSA) or progressive supranuclear palsy (PSP), but only two with Parkinson's disease) and concluding that neither a prion-like transmission nor shared environmental factor seem to play a role in the pathogenesis of Parkinson's disease . They further suggest that the risk of parkinsonism in unrelated couples is similar to that in the general population.
- Parkinsonism occurring in the context of fronto-temporal dementia (FTD) is most commonly related to mutations of microtubule-associated protein tau (MAPT) gene on chromosome 17, though other genes have been implicated . To date, over 50 pathogenic MAPT mutations have been described, accounting for the large majority of FTD cases associated with parkinsonism (FTDP-17) . The mean age of onset of FDTP-17 related to MAPT mutations is 49 years and the phenotype includes behavioural changes, dementia and parkinsonism, variably appearing during the disease .
- Echophenomena denote the stimulus-triggered repetition of actions (echopraxia) or sounds (echolalia). Gilles de la Tourette syndrome is the most commonly known neuropsychiatric syndrome associated with the presence of echophenomena. However, several other conditions, including the bizarre and less well-explored culture-specific startle syndromes (i.e., Latah, Jumping Frenchmen and Miryachit) may also present echophenomena [1,2]. To date, there has been no report of echophenomena in functional movement disorders.
- It has been increasingly recognized that the majority of patients with a diagnosis of idiopathic propriospinal myoclonus have either a subsequent clinical course or electrophysiological features indicating that the likely etiology is psychogenic. However, the clinical features of psychogenic axial myoclonus and the long-term outcome have not yet well characterized.