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We report the case of a patient who had benefited from bilateral subthalamic nucleus deep brain stimulation for Parkinson's disease and who presented acute and reproducible manic behaviour when stimulated mainly in the substantia nigra. A positron emission tomography scan showed an activation of the right dorsolateral prefrontal and inferior temporal cortex, the left anterior cingulate cortex and a deactivation of the left insula. This suggests that changes in cortical activation related to mania are subcortically driven, involving notably the substantia nigra. [ABSTRACT FROM AUTHOR]

1 - To assess the anatomical localization of the active contacts of deep brain stimulation targeted to the subthalamic nucleus (STN) in Parkinson’s disease patients. 2 - To analyze the stereotactic spatial distribution of the active contacts in relation to the dorsal and the ventral electrophysiologically-defined borders of the STN and the stereotactic theoretical target. Twenty-eight patients underwent bilateral high-frequency stimulation of the STN (HFS-STN). An indirect anatomical method based on ventriculography coupled to electrophysiological techniques were used to localize the STN. Clinical improvement was evaluated by Unified Parkinson’s Disease Rating Scale motor score (UPDRS III). The normalized stereotactic coordinates of the active contact centres, dorsal and ventral electrophysiologically-defined borders of the STN were obtained from intraoperative X-rays images. These coordinates were represented in a three-dimensional stereotactic space and in the digitalized atlas of the human basal ganglia. HFS-STN resulted in significant improvement of motor function (62.8%) in off-medication state and levodopa-equivalent dose reduction of 68.7% (p < 0.05). Most of the active contacts (78.6%) were situated close to (± 1.6 mm) the dorsal border of the STN (STN-DB), while 16% were dorsal and 5.4% were ventral to it. Similar distribution was observed in the atlas. The euclidean distance between the STN-DB distribution center and the active contacts distribution center was 0.31 mm, while the distance between the active contacts distribution center and the stereotactic theoretical target was 2.15 mm. Most of the space defined by the active contacts distribution (53%) was inside that defined by the STN-DB distribution. In our series, most of the active electrodes were situated near the STN-DB. This suggests that HFS-STN could influence not only STN but also the dorsal adjacent structures (zona incerta and/or Fields of Forel). [ABSTRACT FROM AUTHOR]

Obsessive compulsive disorders (OCD) may be encountered after basal ganglia lesions of various aetiologies. These lesions are usually bilateral. We report here the case of a 24 years old man who developed a pure compulsive behavior after a unilateral left-sided caudate nucleus hemorrhage due to a cavernoma. The pathophysiology of this compulsive disorder probably reflects a frontal cortex deafferentation mechanism. Behavioral, psychological and medical (serotoninergic) treatments are usually proposed but the efficacy of such therapy remains to be investigated in secondary OCD. [ABSTRACT FROM AUTHOR]

Functional imaging techniques provide major insights into understanding the pathophysiology, progression, complications, and differential diagnosis of Parkinson''s disease (PD). The dopaminergic system has been particularly studied allowing now early, presymptomatic diagnoses, which is of interest for future neuroprotective strategies. The existence of a compensatory hyperactivity of dopa-decarboxylase at disease onset has been recently demonstrated in the nigrostriatal and also extrastriatal dopaminergic pathways. Modification of dopamine receptors expression is observed during PD, but the respective contribution of dopaminergic drugs and the disease process towards these changes is still debated. Abnormalities of cerebral activation are seen and are clearly task-dependent, but the coexistence of hypoactivation in some areas and hyperactivation in others is also now well established. Such hyperactivation may be compensatory but could also reflect an inability to select appropriate motor circuits and inhibit inappropriate ones by PD patients. Interestingly, dopaminergic medications or surgical therapy reverse such abnormalities of brain activation. [Copyright &y& Elsevier]

BACKGROUND: Thalamic stimulation is an efficient treatment for disabling essential tremor, as previously shown, but follow up has mostly been short term. OBJECTIVES: To see whether good results can be maintained in the longer term. METHODS: 37 patients with essential tremor had implantation of a thalamic stimulator, either unilaterally or bilaterally. The results at one year have been reported earlier. After six years, 19 patients were available for follow up. The main instrument for evaluation was the essential tremor rating scale. The patients were examined with pulse generators turned on and off. RESULTS: In the majority of patients, the very good results with stimulation seen at one year were maintained after a mean of 6.5 years. The reduction in tremor scores and improvement in activities of daily living were highly significant compared with baseline and with the stimulation turned off. There were few serious adverse events. Minor side effects related to stimulation were common. Few device related complications were observed and most could be resolved. CONCLUSIONS: Good reduction in tremor can be maintained for more than six years in the majority of these severely disabled patients. Thalamic stimulation can be recommended in essential tremor where there is insufficient response to drug treatment. Surgical procedures and follow up should be concentrated in relatively few centres, which will thereby acquire a high degree of expertise. [ABSTRACT FROM AUTHOR]

Introduction. – Melas syndrome is a mitochondrial disease which corresponds to the association of mitochondrial encephalopathy, lactic acidosis and stroke-like espisodes.Case report. – The authors report the case of a 39 year-old woman presenting with hearing loss, seizures, visual field deficit, three stroke-like episodes and calcifications of the basal ganglia and cerebellar dentate nuclei. Melas syndrome was suspected and confirmed by muscle biopsy, showing ragged red fibers and the presence of an A3243G mutation of mitochondrial DNA.Conclusion. – This clinical, pathological and radiological observation shows that intracerebral calcifications may involve the dentate nuclei of the cerebellum in the Melas syndrome. [Copyright &y& Elsevier]

Introduction Les troubles de la marche et le freezing – blocage survenant à l’initiation ou en cours de mouvement – sont fréquents et invalidants aux stades avancés de la maladie de Parkinson. Leur réponse aux traitements usuels (dopathérapie et stimulation des noyaux subthalamiques [NST]) est le plus souvent insatisfaisante. La stimulation des noyaux pédonculopontins (NPP) a été récemment proposée comme alternative thérapeutique pour la prise en charge des formes non-répondantes. Les circuits cérébraux sous-jacents, tout comme les mécanismes d’action de cette cible, restent cependant largement méconnus. Matériel et méthode La présente étude se proposait de mieux circonscrire la physiopathologie des troubles dopa-résistants et leur modulation par la stimulation bilatérale des NPP chez des patients doublement implantés (NST/NPP ; n = 3), au moyen de la technique de tomographie par emission de positons (TEP-H2O15), lors d’une tâche d’imagerie motrice de la marche. Les patients ont été scannés stimulation des NPP en marche et à l’arrêt, sous stimulation chronique des NST, à jeun de traitement dopaminergique. Résultats Lors de la réalisation de la tâche mentale, une hypoactivation frontale associée à une hyperactivation pariétale étaient constatées chez les patients, stimulation des NPP éteinte, comparativement aux données obtenues chez des témoins appariés en âge et en genre. Des activations dans l’aire motrice supplémentaire, les noyaux gris centraux, le cervelet et le mésencéphale (NPP, noyaux cunéiformes) étaient par ailleurs retrouvées, stimulation des NPP allumée. Discussion–conclusion La restauration conjointe d’activité de structures fronto-striatales, du cervelet et du mésencéphale sous stimulation bilatérale des NPP pourrait donc contribuer à améliorer la marche parkinsonienne. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article "Hereditary Hemochromatosis Is Unlikely to Cause Movement Disorders: A Critical Review" in the 2004 issue.

Presents a case study of a teenage boy who developed chorea following a cardiac surgery for an infundibular ventricular septal defect. Clinical manifestation of chorea; Medical history of the patient; Incidence of neurological complications due to cardiopulmonary bypass.

The geste antagoniste is a voluntary maneuver that temporarily reduces the severity of dystonic posture or movements. It is a classical feature of focal and particularly cervical dystonia. However, the precise historical aspects of geste antagoniste still remain obscure. The goals of this review were (1) to clarify the origin of the geste antagoniste sign; (2) to identify the factors that led to its diffusion in the international literature; (3) to follow the evolution of that term across the twentieth century. We used medical and neurological French, German and English literature of the late nineteenth and early twentieth centuries, and the PubMed database by entering the terms geste antagoniste, antagonistic gesture and sensory trick. The geste antagoniste sign is a legacy of the Paris Neurological School of the end of the nineteenth century. The term was introduced by Meige and Feindel in their 1902 book on tics, written in the vein of their master, Brissaud, who first described this sign in 1893. The almost immediate translations of this book by Giese into German and Kinnier Wilson into English contributed to the rapid spreading of the term geste antagoniste, which is still in use worldwide today. The term antagonistic gesture is the translation proposed by Kinnier Wilson, which also led to the use of the term geste antagonistique. The geste antagoniste sign has long been considered a solid argument for the psychogenic origins of dystonia until the 1980s when Marsden made strong arguments for its organic nature. [ABSTRACT FROM AUTHOR]

Management of Parkinson's disease (PD) using deep brain stimulation (DBS) requires complex care in specialized, multidisciplinary centers. A well-organized, efficient patient flow is crucial to ensure that eligible patients can quickly access DBS. Delays or inefficiencies in patient care may impact a center's ability to meet demand, creating a capacity bottleneck. Analysis of the current practices within a center may help identify areas for improvement. After external audit of the DBS workflow of the Lyon Neurological Hospital and comparison with other European centers, manageable steps were suggested to restructure the care pathway. Propositions of the audit comprised, for example: (1) directly admitting referred patients to hospital, without a prior neurological outpatient visit and (2) including the preoperative anesthesia consultation in the hospital stay 1 month before surgery, not separately. This reorganization (between 2013 and 2016) was performed without increases in hospital medical resources or costs. The time from patients' first referral to surgery was reduced (from 22 to 16 months; p = 0.033), as was the number of pre- and postoperative patient visits (11-5; p = 0.025) and the total cumulative length of in-hospital stay (20.5-17.5 nights; p = 0.02). Ultimately, the total number of PD consultations increased (346-498 per year), as did the number of DBS implants per year (32-45 patients). In this single center experience, restructuring the DBS care pathway allowed a higher number of PD patients to benefit from DBS therapy, with a shorter waiting time and without decreasing the quality of care. [ABSTRACT FROM AUTHOR]

Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of L-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia. In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after L-Dopa treatment. Fifty seven of these patients were classified as pure Dopa-responsive dystonia and seven as Dopa-responsive dystonia-plus syndromes. All patients were screened for point mutations and large rearrangements in the GCH1 gene, followed by sequencing of the TH and SPR genes, then PTS (pyruvoyl tetrahydropterin synthase), PCBD (pterin-4a-carbinolamine dehydratase), QDPR (dihydropteridin reductase) and PARK2 (parkin) genes. We identified 34 different heterozygous point mutations in 40 patients, and six different large deletions in seven patients in the GCH1 gene. Except for one patient with mental retardation and a large deletion of 2.3 Mb encompassing 10 genes, all patients had stereotyped clinical features, characterized by pure Dopa-responsive dystonia with onset in the lower limbs and an excellent response to low doses of L-Dopa. Dystonia started in the first decade of life in 40 patients (85%) and before the age of 1 year in one patient (2.2%). Three of the 17 negative GCH1 patients had mutations in the TH gene, two in the SPR gene and one in the PARK2 gene. No mutations in the three genes involved in the biosynthesis and recycling of BH4 were identified. The clinical presentations of patients with mutations in TH and SPR genes were strikingly more complex, characterized by mental retardation, oculogyric crises and parkinsonism and they were all classified as Dopa-responsive dystonia-plus syndromes. Patient with mutation in the PARK2 gene had Dopa-responsive dystonia with a good improvement with L-Dopa, similar to Dopa-responsive dystonia secondary to GCH1 mutations. Although the yield of mutations exceeds 80% in pure Dopa-responsive dystonia and Dopa-responsive dystonia-plus syndromes groups, the genes involved are clearly different: GCH1 in the former and TH and SPR in the later. [ABSTRACT FROM AUTHOR]

Background: In patients with Parkinson's disease (PD), motor performance may be dramatically improved in urgent and stressful situations. Objective: The aim of this PET H2150 study was to determine the changes in brain activation pattern related to this unconscious increase in motor speed observed in the context of urgency in patients with PD. Methods: Eight right-handed patients with PD, who had been off medication for at least 12 hours, without tremor, were enrolled. A reaching task with the right hand was performed under three conditions: self-initiated (SI), externally cued (EC) and externally cued-urgent (ECu). Results: (1) Self-initiated movements (SI-EC) revealed activations in the prefrontal cortex bilaterally, the right lateral premotor cortex, anterior cingulate cortex and cerebellum, and the left primary motor cortex and thalamus; (2) Externally driven responses (EC-SI) did not involve any statistically detectable activation; (3) Urgent situations (ECu-EC) engaged the left cerebellum. Compared with a control group previously studied, the cerebellar activation was greater in patients with PD. Conclusions: This study demonstrates that the increase in movement speed in urgent situations in patients with PD is associated with the recruitment of the left (contralateral) cerebellum. This structure is a key node of the accessory motor circuitry typically recruited by patients with PD to compensate for basal ganglia dysfunction and by healthy subjects to increase movement velocity in urgent motor contexts. [ABSTRACT FROM AUTHOR]

B Background: b De novo parkinsonian patients with apathy, depression and anxiety exhibit profound serotonergic dysfunction and microstructural disarray in the limbic system in comparison to non-apathetic parkinsonian patients. B Results: b Eleven patients with apathy and 11 patients without apathy at diagnosis completed the follow-up evaluation at median (IQR) 4.3 (0.6) years after diagnosis. Apathy, depression, anxiety and fatigue improved in apathetic parkinsonian patients over time, whereas these symptoms worsened in non apathetic parkinsonian patients (p<0.001). [Extracted from the article]

Abstract: Head tremor is very unusual in Parkinson''s disease (PD). Five PD patients presenting a head tremor during the disease evolution have recently been reported. Here we describe a 74 year-old woman with a pure head resting tremor. The tremor was responsive to levodopa and had a 4.7 Hz frequency. A [123I]FP-CIT SPECT imaging confirmed a reduction of tracer uptake in the right striatum consistent with PD, that should be confirmed by long-term follow-up. [Copyright &y& Elsevier]