Clinical Applications of [¹²³I]FP-CIT SPECT Imaging

Dopamine transporter (DAT) imaging with [123I]N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)nortropane ([123I]FP-CIT) single-photon emission computed tomography (SPECT) is commonly used in routine clinical studies to exclude or detect a loss of striatal DATs in individual patients with a movement disorder or dementia. In this chapter, we describe the clinical applications of [123I]FP-CIT SPECT imaging. To facilitate the interpretation of [123I]FP-CIT SPECT images, we first describe the results of [123I]FP-CIT SPECT studies in healthy controls. Thereafter, we describe the typical findings when applying this technique in movement disorders and dementia characterised by a loss of striatal DATs (e.g. Parkinson's disease and dementia with Lewy bodies). We will also describe the possibilities to analyse [123I]FP-CIT SPECT scans in the setting of routine clinical practice. Finally, we briefly discuss the characterisation of extrastriatal [123I]FP-CIT binding and its potential role in future studies.</p

Clinical Applications of [¹²³I]FP-CIT SPECT Imaging

Dopamine transporter (DAT) imaging with [123I]N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)nortropane ([123I]FP-CIT) single-photon emission computed tomography (SPECT) is commonly used in routine clinical studies to exclude or detect a loss of striatal DATs in individual patients with a movement disorder or dementia. In this chapter, we describe the clinical applications of [123I]FP-CIT SPECT imaging. To facilitate the interpretation of [123I]FP-CIT SPECT images, we first describe the results of [123I]FP-CIT SPECT studies in healthy controls. Thereafter, we describe the typical findings when applying this technique in movement disorders and dementia characterised by a loss of striatal DATs (e.g. Parkinson's disease and dementia with Lewy bodies). We will also describe the possibilities to analyse [123I]FP-CIT SPECT scans in the setting of routine clinical practice. Finally, we briefly discuss the characterisation of extrastriatal [123I]FP-CIT binding and its potential role in future studies.</p

Familial adult myoclonus epilepsy:Neurophysiological investigations

Familial adult myoclonus epilepsy (FAME) also described as benign adult familial myoclonus epilepsy (BAFME) is a high-penetrant autosomal dominant condition featuring cortical myoclonus of varying frequency and occasional/rare convulsive seizures. In this update we provide a detailed overview of the main neurophysiological findings so far reported in patients with FAME/BAFME. After reviewing the diagnostic contribution of each neurophysiological technique, we discuss the possible mechanisms underlying cortical hyperexcitability and suggest the involvement of more complex circuits engaging cortical and subcortical structures, such as the cerebellum. We, thus, propose that FAME/BAFME clinical features should arise from an “abnormal neuronal network activity,” where the cerebellum represents a possible common denominator. In the last part of the article, we suggest that future neurophysiological studies using more advanced transcranial magnetic stimulation (TMS) protocols could be used to evaluate the functional connectivity between the cerebellum and cortical structures. Finally, non-invasive brain stimulation techniques such as repetitive TMS or transcranial direct current stimulation could be assessed as potential therapeutic tools to ameliorate cortical excitability.</p

Functional Jerky Movements

Functional jerky movements (or functional myoclonus) are commonly seen in patients with functional movement disorder. Positive features both from history and clinical examination are important for the diagnosis. However, due to their heterogeneous and paroxysmal nature a home-made video-recording of the jerky movements can be essential to make the diagnose by a movement disorder specialist. Supportive clinical clues include abrupt symptom onset often triggered by a physical event, whereas entrainment and distractibility are supportive signs during physical examination. Localization of the jerky movements, especially proximal localization, is supportive, and can also be helpful in distinguishing functional jerks from tics and myoclonus, which are the most important differential diagnostic considerations. Additional neurophysiological tests include polymyography and electroencephalography-electromyography (EEG-EMG) co-registration in order to demonstrate a readiness potential (RP). Management includes disease education and specialized physical therapy

New developments in diagnostics and treatment of adult-onset focal dystonia

Purpose of reviewThe aim of this review is to showcase the recent developments in the field of diagnosis and treatment of adult-onset focal dystonia.Recent findingsAccurate phenotyping of focal dystonia is essential in the process of finding an underlying cause, including acquired, genetic, and idiopathic causes. Motor symptoms as well as the associated nonmotor symptoms and their detrimental impact on quality of life have received increased interest over the last years. The diagnostic process is complicated by the steadily increasing numbers of newly discovered genes associated with dystonia. Recent efforts have been aimed at further developing recommendations and algorithms to aid in diagnosis and in navigating the use of diagnostic tools. In terms of treatment, research on DBS is advancing towards a better understanding of the most effective stimulation locations within the globus pallidus. Moreover, with the introduction of the LFP-recording devices, the search continues for an accurate electrophysiological biomarker for dystonia.SummaryAccurate phenotyping and (sub)classification of patients with dystonia is important for improving diagnosis, subsequent treatment effect and population-based study outcomes in research. Medical practitioners should be attentive to the presence of nonmotor symptoms in dystonia.</p

New developments in diagnostics and treatment of adult-onset focal dystonia

Purpose of reviewThe aim of this review is to showcase the recent developments in the field of diagnosis and treatment of adult-onset focal dystonia.Recent findingsAccurate phenotyping of focal dystonia is essential in the process of finding an underlying cause, including acquired, genetic, and idiopathic causes. Motor symptoms as well as the associated nonmotor symptoms and their detrimental impact on quality of life have received increased interest over the last years. The diagnostic process is complicated by the steadily increasing numbers of newly discovered genes associated with dystonia. Recent efforts have been aimed at further developing recommendations and algorithms to aid in diagnosis and in navigating the use of diagnostic tools. In terms of treatment, research on DBS is advancing towards a better understanding of the most effective stimulation locations within the globus pallidus. Moreover, with the introduction of the LFP-recording devices, the search continues for an accurate electrophysiological biomarker for dystonia.SummaryAccurate phenotyping and (sub)classification of patients with dystonia is important for improving diagnosis, subsequent treatment effect and population-based study outcomes in research. Medical practitioners should be attentive to the presence of nonmotor symptoms in dystonia.</p