David R Williams

..The heterogenous nature of essential palatal tremor and its relationship with PPT, voluntary palatal movements, and tics is discussed...

..It had the unusual characteristic of being evoked by sustained up gaze and left gaze...

..To report a dominant, slowly progressive early onset distal myopathy with sparing of the tibialis anterior...

..No mutations were found in 75 patients (21 PSP-P), and H1c was associated with both Richardson's syndrome and PSP-P compared with controls. Routine screening for MAPT mutations in atypical PSP is not recommended...

..This review examines the important clinical features of the most prevalent tauopathies and the molecular and pathological features that underpin the classification system...

..The growing number of collective case reports, including the one reported here, might suggest an increased prevalence of concomitant PSP and MSA than what would be expected by chance...

..The grading system we have developed provides an easy-to-use and sensitive tool for the morphological assessment of PSP-tau pathology and allows for consideration of the clinical diversity that is known to occur in PSP...

..Cortical amyloid-β and age at disease onset seem to determine the rate to dementia...

..Despite these diagnostic difficulties we conclude that corticobasal degeneration is a discrete clinicopathological entity but with a broader clinical spectrum than was originally proposed...

..These clinical data are supported by the pathological study, in which higher overall cortical Lewy body counts, and in particular areas implicated in visuoperception and executive function, were associated with visual hallucinations...

..However, the low sensitivity of these and macroscopic findings at autopsy suggest a need for imaging techniques sensitive to microstructural abnormalities without regional atrophy...

..Our findings suggest a positive impact of chronic L-dopa use on the number of NSC in the SVZ of PD patients, which may have relevance for future studies on neuroprotection in neurodegenerative diseases...

..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..

..Further prospective studies including patients with early PSP and PSP-P with postmortem confirmation might help clarify if smell tests could be useful when the differential diagnosis lies between PD and PSP...

..This case and the literature support the notion that biochemical properties of the prion protein can influence the clinical presentation of sCJD...

..In this review, the published frequencies of VH in these different conditions are compared to put into context the notion of VH as a clinical clue to underlying Lewy body pathology...

..Several new features were identified, including facial-faucial-finger mini-myoclonus, visual hallucinations, and oculogyric dystonic spasms...

..The different tau isoform deposition in the basal pons suggests that this may ultimately prove to be a discrete nosological entity...

..To trace the historical events leading to Richardson's clinical description of progressive supranuclear palsy (PSP) in the context of subsequent observations of its clinical heterogeneity and pathologic overlap with other tauopathies...

..This relatively uncommon presentation of PSP-tau pathology has less severe tau accumulation than in the more common, "classic" PSP clinical phenotype: Richardson's disease...

..Even these features must be interpreted in conjunction with other clinical characteristics to be helpful diagnostically. © 2012 Movement Disorder Society...

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..We suggest smell tests could be used routinely in challenging cases where there is diagnostic uncertainty and help inform decision making relating to the need for neuro imaging...

..We propose that VH be added, as a supportive criterion, to the operational clinical criteria for the diagnosis of PD...

..PSP-P shares many clinical features with PD and DLB, MSA and VP, but visual hallucinations, drug induced dyskinesias and autonomic dysfunction are very uncommon and may be helpful exclusion criteria...

..Despite such difficulties, improved technology, in conjunction with advances in nosology and pathology, means that biomarkers are poised to enter routine clinical practice to aid the differentiation of parkinsonian disorders...

..Presenting with NMS does not affect the motor response to medication, but is associated with shorter disease duration (chi(2) P = 0.016)...

..Future studies using standardized techniques and larger patient numbers are awaited to realise the full potential of αS as a more definitive diagnostic biomarker...

..In this way, the development of the clinical features can be informative in assigning less common nosological categories that give clues to the underlying pathology and an understanding of the expected clinical course...

..It may occur in other neurodegenerative disorders including sporadic Creutzfeldt-Jakob disease (sCJD). Current CBD diagnostic criteria outline features of CBS but fail to distinguish CBD from other causative pathologies...

..Spontaneous remissions and disappearance of the jerks, sustained for 2 years, following removal of superficial surgical screws support the diagnosis of a psychogenic movement disorder...

..The aim of this approach is to inform both specialists and general neurologists on the appropriate diagnostic test for each patient who presents with a possible dystonic syndrome...

..To characterize the phenotype and investigate the associations of intraretinal crystalline deposits in a large cohort with type 2 idiopathic macular telangiectasia (MacTel)...