Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.

Low performance in decision-making under ambiguity and abnormal social behavior distinguished PD patients with PG from those without this disorder. Dopamine replacement therapy may induce dysfunction of the ventromedial prefrontal cortex and amygdala-ventral striatum system, thus increasing the risk for developing PG.

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It has been suggested that potential risk of hemiballismus after subthalamotomy makes DBS preferable to ablation for IPD treatment; however, cost and the need for regular electrode control have also been observed as disadvantages to stimulation. The objective was to compare efficacy and safety of different surgical approaches to STN, in a prospective randomized pilot study. Sixteen consecutive IPD patients randomized to receive either: bilateral STN-DBS, bilateral subthalamotomy or unilateral subthalamotomy plus contralateral STN-DBS implantation, and followed for 12 months after surgery. One patient died and was excluded from the analysis. Total and motor UPDRS scores, as well as drug-induced dyskinesias improved significantly at 1 year follow-up, regardless of the procedure administered and without statistically significant differences between treatment modalities. Discrete changes were observed on ACE and MMSE scores. Psychiatric examination of patients subjected to bilateral stimulation and lesion, revealed slight increment in apathy and irritability scores, coinciding with significant deterioration of mentation, behaviour and mood as measured using the UPDRS. One patient presented persistent hemiballismus and required ulterior posteroventral pallidotomy. In this small group of patients, overall motor performance significantly improved after all three procedures, without major differences in outcome. Adverse events were, nevertheless, observed after both ablation and stimulation. The role of bilateral subthalamotomy in patients unable to receive a DBS electrode-implant merits further exploration in a larger series of patients with longer follow-up.

Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the most frequent extracerebellar sign. The aim of this article is to perform a systematic review of movement disorders frequency and characteristics in ADCAs. This work consisted of a structured search of electronic databases up to January 2013. Publications containing descriptions of ADCA clinical features written in several languages were selected initially based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data on genetically confirmed patients were extracted. Analysis of individual patient data from subjects with movement disorders was performed using the chi-square test and logistic regression. One thousand and sixty-six publications reviewing 12,151 patients from 30 different SCAs were analyzed. Individual data were available from 755 patients with at least one type of movement disorder during overall disease course. Of 422 patients in whom onset symptom data were available, one third referred a movement disorder as the initial symptom. During overall disease course, parkinsonism was common in many SCA subtypes, frequently described in the absence of ataxia and characterized as responding to dopaminergic medications. Motor complications developed occasionally in some patients as did nigrostriatal imaging alterations. Other frequent features were dystonia, chorea, and myoclonus. Rare conditions, such as akathisia, paroxysmal nonkinesigenic dyskinesia, or stiff person-like syndrome, were also reported. ADCA descriptions included a full range of movement disorders. Aside from postural or intention tremor, dopamine-responsive parkinsonism and dystonia were the most common.

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The results are compatible with the idea that a higher basal activation of autonomic nervous system is beneficial for subsequent decision-making process.

The objective of this study was to describe the firing characteristics of the zona incerta (ZI) in Parkinson's disease patients. The ZI constitutes a band of gray matter lying dorsal to the subthalamic nucleus, whose firing properties have not been well defined in humans yet. ZI proved to become hyperactive in 6-OHDA-lesioned rats as compared to normal rats, and regarding these noticeable changes in the discharge patterns it was suggested that ZI could be a putative target for the surgical treatment of Parkinson's disease. Twelve patients who underwent microrecording-guided subthalamic surgery consented to the study. Neurons from different tracts were classified as belonging to the ZI according to their firing features, background extracellular activity, anatomical mapping of trajectories, and atlas confirmation. Fifty-nine neurons were classified as belonging to ZI. The mean firing rate proved to be 29.5 Hz, with a broad dispersion band, even covering subthalamic nucleus (STN) frequency ranges. Pattern analysis showed heterogeneous neuronal signals ranging from tonic to burst and paused neurons. A decrease in extracellular background activity in the defined ZI was also observed. Five of the recorded neurons showed rhythmical spike trains with oscillations of 8 to 14 Hz, and two units were found to discharge trains at 4 Hz. None of the recorded ZI neurons responded to proprioceptive maneuvers. ZI presented firing activities with a broad spectrum in terms of frequency and tonicity. It is differentiated from STN recordings in Parkinson's disease patients mainly because of absent proprioceptive-related units and diminished extracellular background activity.